RESEARCH ARTICLE

EDITOR’S NOTE
The following article by Hennekam and colleagues represents the available through free access online at the Wiley Online Library page
latest contribution to the Elements of Morphology series. The for the American Journal of Medical Genetics.
authors propose standard terminology for the male and female John C. Carey
genitalia. Like the other articles in the Elements series, this paper is Editor-in-chief

Elements of Morphology: Standard Terminology for

the External Genitalia
Raoul C.M. Hennekam,1* Judith E. Allanson,2 Leslie G. Biesecker,3 John C. Carey,4 John M. Opitz,4
and Eric Vilain5
1
Department of Pediatrics and Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
2
Department of Genetics, Children’s Hospital of Eastern Ontario, Department of Pediatrics, University of Ottawa, Ottawa, Canada
3
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
4
Division of Medical Genetics, Human Genetics, Pathology, Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah
5
Departments of Human Genetics, Pediatrics and Urology, David Geffen School of Medicine, UCLA, Los Angeles, California

Manuscript Received: 9 November 2012; Manuscript Accepted: 25 January 2013

An international group of clinicians working in the field of

dysmorphology has initiated the standardization of terms How to Cite this Article:
used to describe human morphology. The goals are to standard- Hennekam RCM, Allanson JE, Biesecker
ize these terms and reach consensus regarding their definitions. LG, Carey JC, Opitz JM, Vilain E. 2013.
In this way, we will increase the utility of descriptions of the Elements of morphology: Standard
human phenotype and facilitate reliable comparisons of findings terminology for the external genitalia.
among patients. Discussions with other workers in dysmorphol- Am J Med Genet Part A 161A:1238–1263.
ogy and related fields, such as developmental biology and mo-
lecular genetics, will become more precise. Here we introduce the
anatomy of the male and female genitalia, and define and illus-
The reader is encouraged to consult the introduction when using
trate the terms that describe the major characteristics of these
the definitions.
body regions. Published 2013. This article is a U.S. Government work and is in
the public domain in the USA.
MALE EXTERNAL GENITALIA
Key words: nomenclature; definitions; ontology; genitalia; male Anatomy of the Male External Genitalia
genitalia; female genitalia; anatomy; anthropometry; morphol- The normal anatomy of the male external genitalia is shown in
ogy; dysmorphology Figures 1 and 2. Some anatomical landmarks deserve specific
mention as these are not used consistently.
INTRODUCTION Grant sponsor: NIH; Grant number: # 1 R01 HD068138; Grant sponsor:
General Intramural Research Program of the National Human Genome Research
Institute.
This paper is part of a series of papers defining the morphologic 
Correspondence to:
variations of the human body detectable by surface examination
Dr. R.C. Hennekam, Department of Pediatrics, Academic Medical Center,
[Biesecker et al., 2009; Carey et al., 2009; Hall et al., 2009; Hennekam Floor H7-236, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
et al., 2009; Hunter et al., 2009; Allanson et al., 2009b]. Additional E-mail: [email protected]
papers on the morphology of the limbs and trunk are in pre- Article first published online in Wiley Online Library
paration. The series is accompanied by an introductory paper (wileyonlinelibrary.com): 6 May 2013
describing general aspects of this project [Allanson et al., 2009a]. DOI 10.1002/ajmg.a.35934

Published 2013 Wiley Periodicals, Inc. 1238

HENNEKAM ET AL. 1239

FIG. 1. Anatomy of external male genitalia. a: Anterior overview. b: Inferior overview.

Penile shaft: the part of the penis running from the abdominal Corona: a semi-circular prominence of the glans of the penis,
wall to the corona. situated on the dorsum of the penile shaft. In a flaccid penis it is
Penile raphé: slightly elevated line of tissue on the ventral aspect usually covered by the foreskin except in men who have been fully
of the shaft of the penis, continuing on to the foreskin. circumcised.
Glans penis: the rounded tip of the penis, demarcated from the
shaft by the sulcus. In a flaccid penis it is usually covered by the
foreskin except in men who have been fully circumcised.
Meatus: a slit-like opening on the tip of the glans of the penis,
running in a ventral–dorsal direction.
Urethral raphé: a slightly elevated ridge of skin extending from
the ventral aspect of the meatus to the frenulum.
Foreskin: a loose fold of skin (outer) and mucous membrane
(inner) arising from the shaft of the penis, and in a flaccid penis
usually covering the glans. In young boys, the demarcation of the
foreskin and glans is often not fully formed, prohibiting retraction
of the foreskin below the corona.
Frenulum of the foreskin: a band of elastic tissue covered by
mucous membrane on the ventral side of the penis attaching the
foreskin to the glans of the penis.
Scrotum: a loose sac of skin containing the testes and located
inferior to the base of the penis. Scrotal skin has small elevations
(rugae) on the surface and is more pigmented than the remainder of
the body, irrespective of ethnic background, although this distinc-
tion is more obvious in individuals with a dark skin.
Scrotal raphé: a slightly elevated ridge of tissue running from
the base of the penis to the midline of the perineum. The scrotal
raphe is in continuity with the penile raphé superiorly and the
perineal raphé inferiorly. Slight hyperpigmentation of the genital
raphés (penile, scrotal, and perineal) is almost invariably
present.
Perineal raphé: a slightly elevated ridge of tissue in the midline of
the perineum running from the inferior attachment of the scrotum
to the anus and in continuity with the scrotal raphé.
Testis: a mobile ovoid-shaped organ palpable and usually partly
FIG. 2. Anatomy of external male genitalia. a: Anterior and side visible through the skin of the scrotum.
view of the penis with the preputium removed. b: Detailed side Epididymis: an oblong organ attached to the testis. The epidid-
and posterior view of the penis with the preputium removed.
ymis can be visualized by trans-illumination and is palpable in the
scrotum.
1240 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pubertal Stages influence this measurement and the ruler should be pressing against
The timing of puberty varies greatly in the general population and is the pubic symphysis. Determining of the size of the testes are
influenced by genetic and environmental factors [Gajdon performed either by estimation of the size of the testes by palpation
et al., 2009]. In evaluating the pubertal development in a child, and comparison with a Prader orchidometer (Fig. 4), or by mea-
ethnic background and intra-familial variation should be taken into suring width and length of the testis using calipers, straight ruler, or
account. Tanner stages are commonly used to score pubertal tape measure. Results of measurements determined by calipers,
development [Tanner, 1986]. In males, the stages are determined rulers or tape measures typically yield larger estimates of the
by assessing the length and width of the penis, size of the testes, and testicular volume than those by Prader orchidometers, and, over
pubic hair growth (Fig. 3). As each of these components is defined time, measurements in individual patients should be performed
here separately, the pubertal stages are not discussed in further using the same method.
detail. The reader is referred to the Handbook of Normal Physical
Measurements [Hall et al., 2007] for detailed descriptions of
measurement techniques and growth standards. Except for puber-
Measurements of the Male External Genitalia tal developmental stages, growth standards are provided for Cau-
Measurements of the penis are possible using sliding calipers or a casians of Northern European extraction only, but abundant data
straight-edged plastic ruler. The reliability of measurements using a on penile growth in individuals of other ethnic backgrounds have
tape measure is poor. Penile length is measured from the base of the been published.
gently stretched penis at the pubic symphysis to the tip of the glans
without including the foreskin. Fat pads at the base of the penis Anatomical Variation
Variations of the anatomy of the male external genitalia may be
assessed as quantitative (objective or anthropometric) traits and
qualitative (subjective or categorical) features:

1. Variations in length: long penis; short penis.

2. Variations in width: wide penis; narrow penis.
3. Variations in length and width: absent penis; absent foreskin;
small scrotum; absent scrotum, (apparently) absent testis; small
testis; large testis; supernumerary testis.
4. Variations in shape or position: ambiguous genitalia; bladder
exstrophy, bifid penis; penile torsion, epispadias; hypospadias;
microphallus; penile chordee; webbed penis; penoscrotal trans-
position; accessory scrotum, bifid scrotum; shawl scrotum;
ectopic scrotum, cryptorchidism; hydrocele.
5. Variations in cutaneous manifestations: freckled genitalia; hy-
perpigmented genitalia; hypopigmented genitalia; sparse pubic
hair.

FIG. 3. Puberty stages males according to Tanner [1986]. FIG. 4. Prader orchidometer.
HENNEKAM ET AL. 1241

The various findings are listed alphabetically. If a feature is

indicated in bold-italics, the feature is listed and a definition is
available. The terms are alphabetized based on the physical feature,
not the modifier.
Investigating the genitalia should always be performed with the
observed person in a relaxed position. The presence of a nurse or
parent is advisable. Small children are best investigated in their parent’s
lap. The testes can be palpated in a supine position but it may be useful
to ask the observed person to squat as this allows better palpation.
Repeat genital examinations may be embarrassing for the subject [Lee
et al., 2006] and should be performed only when indicated.

DEFINITIONS
Anorchia: See Testis, (apparently) absent
Aphallia: See Penis, absent
Aposthia: See Foreskin, absent

Bladder, Exstrophy
Definition: Eversion of the posterior bladder wall through the
congenitally absent lower anterior abdominal wall and anterior
bladder wall (Fig. 5). objective
Comments: Exstrophy of the bladder can be associated with
Epispadias and Bifid penis or in females with Bifid clitoris, a bifid
uterus, and a Septated vagina, each of which should be coded
separately.

Chordee
Definition: Ventral, lateral, or ventrolateral bowing of the shaft and
glans penis of more than 30 degrees (Fig. 6). objective
Comments: The degree of variation of penis curvature is a
continuum, but traditionally 30 degrees is considered the threshold
for surgical intervention on chordee [Bologna et al., 1999]. Bowing
usually becomes more obvious in an erect penis, but is frequently
also palpable when stretching a flaccid penis. Chordee can be
congenital or acquired; if the former, it can be associated with
Webbed Penis or Hypospadias, which should be coded separately.

Cryptorchidism
Definition: Testis in inguinal canal. objective
Comments: The gonad is mobile and can be retracted superiorly
by the cremaster muscle reflex stimulated, for instance, by cold or
touch. A retracted testis is not cryptorchidism. An abdominal testis
cannot be distinguished by physical examination from an (Appar-
ently) absent testis and requires radiological (or, rarely, surgical)
procedures for assessment. FIG. 5. Bladder exstrophia. Courtesy of Dr. Anne-Karoline Ebert.
Synonym: Testis, undescended Reprinted with permission from Ebert et al. [2009].

Diphallus: See Penis, bifid

Comments: Epispadias may be present in a phenotypic male,

Epispadias female, or an individual with ambiguous genitalia. A meatus in a
Definition: Dorsal placement of the urethral opening (Fig. 7). phenotypic male may be positioned either on the glans (glandular
objective or balanic epispadias), the shaft (penile epispadias) or at the
1242 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FIG. 6. Chordee. Courtesy of Dr. Montasser El-Koutby. Reprinted

with permission from El-Koutby and El Gohary [2010].

FIG. 8. Foreskin, absence. Courtesy of Dr. S. Sadeghipour and

attachment of the penis to the abdominal wall (penopubic epis- Dr. N. Esmailzadehha. Reprinted with permission from Sadeghi-
padias). Alternatively, the urethra may be an open groove along the pour and Esmailzadehha [2010].
dorsal shaft of the penis, with no readily recognized meatus.
Epispadias is a frequent component of Bladder exstrophy, but
should be coded separately.
Synonym: Aposthia
Foreskin, Absent Foreskin, aposthia: See Foreskin, absent
Definition: Complete absence of the foreskin (Fig. 8). objective
Comments: Absence of the foreskin can be accompanied by Genitalia, Ambiguous
Cryptorchidism and Hypospadias, which should be coded Definition: External genitalia without typical male or female
separately. appearance (Fig. 9). subjective
Comments: Note that this term can include or combine varia-
tions in size and shape, with partial or complete absence of
structures. It is preferable to describe the individual components,
which are defined below. It is nonetheless a widely used bundled
term and as such is retained here (for the definition of a “bundled
term” see Allanson et al. [2009a]). The distinction of this finding
from a marked degree of Hypospadias is an example of how this
term can be problematic.
Synonym: Intersex genitalia
Genitalia, ephelides: See Genitalia, freckled

Genitalia, Freckled
Definition: One or more brown punctate macules on the skin of the
genitalia (Fig. 10). objective
Comments: This should be differentiated from Hyperpigmented
genitalia in which an area larger than a freckle or the complete
external genitalia are hyperpigmented. The description should be
qualified by a description of the affected part(s).
Synonym: Genitalia, ephelides

Genitalia, Hyperpigmented
Definition: Localized or generalized increased genital pigmenta-
FIG. 7. Epispadias. Courtesy of Dr. Anne-Karoline Ebert. Re- tion (Fig. 11). subjective
printed with permission from Ebert et al. [2009]. Comments: This is an assessment of the relative pigmentation of
the genitalia compared to the overall pigmentation of the individ-
HENNEKAM ET AL. 1243

FIG. 9. Ambiguous genitalia.

FIG. 10. Freckled genitalia.

FIG. 11. Hyperpigmented genitalia in males (left and middle) and female (right).
1244 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ual. Hyperpigmentation can affect other parts of the body or be Comments: This is an assessment of the relative pigmentation of
restricted to the genitalia. Genital hyperpigmentation can be gen- the genitalia compared to the overall pigmentation of the individual.
eralized or localized. Localized areas of hyperpigmentation of the Hypopigmentation can affect other parts of the body or be restricted
glans of the penis are especially common. This should be differen- to the genitalia. Genital hypopigmentation can be generalized or
tiated from Freckled genitalia in which one or more small, focal localized. Localized hypopigmentation can be objectively deter-
areas of hyperpigmentation are present. Localized hyperpigmenta- mined due to the difference from the immediate surrounding tissue
tion can be objectively determined due to the difference from the color, while generalized hypopigmentation may be more difficult to
immediate surrounding tissue color, while generalized hyperpig- determine and is therefore a subjective manifestation.
mentation may be more difficult to determine and is therefore a
Genitalia, intersex: See Genitalia, ambiguous
subjective manifestation. If the finding is localized, the description
should be appended with a description of the affected part(s).
Replaces: Penile melanosis
Hydrocele
Definition: Presence of increased fluid around testis leading to an
enlarged scrotum or hemiscrotum (Fig. 13). Subjective
Genitalia, Hypopigmented Comments: The testis itself may not be palpable in the presence
Definition: Localized or generalized decreased genital pigmenta- of large fluid amounts. The assessment of this finding may be aided
tion (Fig. 12). subjective by trans-illumination.

FIG. 12. Hypopigmented genitalia in male (left) and females (middle and right).

FIG. 13. Hydrocele.

HENNEKAM ET AL. 1245

Hypospadias
Definition: Ventral placement of the urethral opening (Fig. 14).
objective
Comments: Hypospadias is categorized in several ways, the most
classical one being first degree (urethral opening on the ventral
glans), second degree (urethral opening on the ventral shaft), and
third degree (urethral opening on the perineum). Second degree
hypospadias is frequently accompanied by Chordee of the penis,
which should be coded separately. The widely used Duckett classi-
fication [Baskin and Duckett, 1996] categorizes hypospadias into
glandular, coronal, distal penile shaft (or “anterior”) subgroup,
mid-shaft (or “middle”) subgroup, or proximal penile shaft, peno-
scrotal, and perineal (or “posterior”) subgroup. A surgically ori-
ented categorization to classify hypospadias has been developed
based on the position of the division of the corpus spongiosum
FIG. 15. Microphallus.
relative to the penile shaft and bony structures of the pelvis
[Orkiszewski, 2012].
Macro-orchidism: See Testis, large
[Cheng and Chanoine, 2001]. A short penis should be differentiated
Macropenis: See Penis, long from an inconspicuous penis, for instance due to excessive supra-
Megalopenis: See Penis, long pubic fat (“buried”) [Bergeson et al., 1993]. We also recognize that
shortness of a penis is defined by some subspecialists as penile length
Micropenis: See Penis, short more than 2.5 SD below the mean.
Replaces: Penis, hypoplastic; Penis, hypotrophic; Penis, small
Microphallus Penile melanosis: See Genitalia, hyperpigmented
Definition: Length of penis more than 2 SD below the mean for age
accompanied by hypospadias (Fig. 15). objective OR Penis, Absent
Apparently decreased length of penis for age with hypospadias. Definition: Lack of recognizable penile structures (Fig. 16).
Subjective objective
Comments: Traditionally a distinction is made between a Short Comments: Absence of the penis is always accompanied by
penis, a short penis with otherwise normal anatomy, versus micro- abnormal position of the meatus (usually in the perineum, some-
phallus, a short penis with hypospadias. Penile length is the distance times in the rectum), may be accompanied by Cryptorchidism
between the midline attachment of the gently stretched, flaccid [Chibber et al., 2005], and is often associated with non-genital
penis above the pubic symphysis and tip of the glans. Details on anomalies [Roth et al., 1981], which all should be coded separately.
measurement of the penis can be found elsewhere [Hall et al., 2007]. Absent penis should be differentiated from a penis concealed within
There are no reliable studies showing a relation between ethnicity pre-pubic fat tissue.
and penile length [Adams, 1996]. There are some data on intereth- Synonym: Aphallia
nic differences in the lower limit of penile length in newborns
Penis, Bifid
Definition: Two penile structures, separated from the tip to the base
of the shaft (Fig. 17). Objective OR
Longitudinal indentation, cleft, or depression of the glans with or
without involvement of the shaft of the penis. Objective
Comments: Note the second definition denotes a bundled term,
but as it is commonly used in practice it is kept here. In individuals
with complete duplication often one will find Hypospadias, Epis-
padias, Bladder exstrophy, or Bifid scrotum, which should be
coded separately, as well as urinary tract duplications, renal anom-
alies, and gastrointestinal duplications [Keckler et al., 2009]. The
terms indicate the presence of (part of) two penises, but do not
indicate whether they are caused by splitting or double formation.
Synonym: Diphallus; Penis, duplicated
FIG. 14. Various forms of hypospadias. There are various
classification systems (see text). Penis, duplicated: See Penis, bifid
Penis, hyperplastic: See Penis, long
1246 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FIG. 16. Absent penis. Courtesy of Dr. Ruchi Gupta (panel A) and Dr. Li Fubiao (panel B). Panel A reprinted with permission from Rattan et al.
[2010]. Panel B reprinted with permission from Wang et al. [2011].

Penis, hypertrophic: See Penis, long assessment may not be possible for an individual with Chordee.
There are no reliable studies showing a relation between ethnicity
Penis, hypoplastic: See Penis, short
and penile length [Adams, 1996].
Penis, hypotrophic: See Penis, short Replaces: Penis, hyperplastic; Penis hypertrophic; Megalopenis;
Macropenis; Penis, large
Penis, large: Not defined as this is a bundled term encompassing
both a Long penis and Wide penis
Penis, Narrow
Definition: Penile width more than 2 SD below the mean for age.
Penis, Long objective OR
Definition: Penile length more than 2 SD above the mean for age Circumference of the flaccid penis more than 2 SD below the
(Fig. 18). objective OR mean for age. objective OR
Apparently increased penile length for age. Subjective Apparently decreased penile width for age. subjective
Comments: Penile length is the distance between the midline Comments: Penile width is the distance between left and right
attachment of the gently stretched, flaccid penis above the pubic side of the flaccid penis at the attachment to the skin above the pubic
symphysis and tip of the glans. Details on measurement of the penis symphysis. Normal values for penile width only exist for newborns
can be found elsewhere [Hall et al., 2007]. This measurement and [Cheng and Chanoine, 2001] and adults [Schneider et al., 2001].

FIG. 17. Bifid penis.

HENNEKAM ET AL. 1247

FIG. 18. Long penis (in newborn children).

Alternatively, penile circumference can be measured, as normal Microphallus, a short penis with hypospadias. Penile length is
values are available at all ages [Damon et al., 1990]. Note the site of the distance between the midline attachment of the gently
measurement (base; mid-shaft; under glans) may differ in the stretched, flaccid penis above the pubic symphysis and tip of
various studies [Ajmani et al., 1985; Ponchietti et al., 2001; Cinaz the glans. Details on measurement of the penis can be found
et al., 2012]. It is important that the measurement site be consistent elsewhere [Hall et al., 2007]. There are no reliable studies showing
with that of the published norms. a relation between ethnicity and penile length [Adams, 1996].
There are some data on interethnic differences in the lower limit of
penile length in newborns [Cheng and Chanoine, 2001]. A short
Penis, Short penis should be differentiated from an inconspicuous penis, for
Definition: Penile length more than 2 SD below the mean for age instance due to excessive suprapubic fat (“buried”) [Bergeson
(Fig. 19). objective OR et al., 1993]. Micropenis (or small penis) is sometimes used as a
Apparently decreased penile length for age. subjective bundled term for short and narrow penis. We recommend that the
Comments: Traditionally a distinction is made between micro- term not be used in this way and that narrowness be coded
penis, a short penis with otherwise normal anatomy versus separately. We also recognize that shortness of a penis is defined

FIG. 19. Short penis. Please note that on panel C the penis seems to be absent, but can be made visible in the same patient in panel D by
pushing surrounding tissues backward.
1248 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Penis, small: Not defined as this is a bundled term encompassing

both Short penis and Narrow penis.

Penis, Torsion of the

Definition: Rotated position of the glans, with or without the penile
shaft, of 30 degrees or more (Fig. 20). objective
Comments: Penile torsion is defined traditionally as being
between 30 and 180 degrees rotation [Montag and Palmer,
2011]. Penile torsion is usually counter clockwise and is often
associated with Chordee and Hypospadias, which should be coded
separately.

Penis, Webbed
Definition: Ventral skinfold extending from penis to scrotum
(Fig. 21). objective
Comments: The distal limit of the skinfold can be located on
the penile shaft or the tip of the penis. Webbing has been
subclassified into a primary form and secondary form (for in-
stance after circumcision) [El-Koutby and Amin el Gohary, 2010]
and may be accompanied by Chordee, which should be coded
separately.

Penis, Wide
Definition: Distance between left and right side of the flaccid penis
at the attachment to the skin above the pubic symphysis more than 2
SD above the mean for age (Fig. 22). objective OR
Circumference of the flaccid penis more than 2 SD above the
mean for age. objective OR
FIG. 20. Torsion of the penis. Courtesy of Dr. Barry Kogan.
Apparently increased distance for age between the left and right
Reprinted with permission from Bauer and Kogan [2009].
side of the flaccid penis at the attachment to the skin above the pubic
symphysis. subjective
Comments: Normal values for penile width only exist for new-
by some subspecialists as penile length more than 2.5 SD below borns [Cheng and Chanoine, 2001] and adults [Schneider
the mean. et al., 2001]. Alternatively penile circumference can be measured,
Synonym: Micropenis as normal values are available at all ages [Damon et al., 1990]. Note
Replaces: Penis, hypoplastic; Penis, hypotrophic; Penis, small the site of measurement (base; mid-shaft; under glans) may differ in

FIG. 21. Webbed penis. Panels B and C courtesy of Dr. Montasser El-Koutby. Reprinted with permission from El-Koutby and El Gohary [2010].
HENNEKAM ET AL. 1249

FIG. 22. Wide penis (newborn child). Courtesy of Dr. Sheela

Nampoothiri.

the various studies [Ajmani et al., 1985; Ponchietti et al., 2001; Cinaz
et al., 2012]. It is important that the measurement site be consistent
with that of the published norms.

Penoscrotal transposition
Definition: Positioning of the scrotum superior to the penis
(Fig. 23). objective
Comments: The base of the penis is entirely covered by the
scrotum, which may be Bifid. If so, this should then be coded
separately. If only part of the scrotum is located superior to the
penis, the term Overriding scrotum is used instead.
Synonyms: Prepenile scrotum FIG. 23. Penoscrotal transposition. Courtesy of Dr. Trine Prescott
Replaces: Doughnut scrotum and Dr. Kathrine Bjørgo (panel A) and Dr Khaled Fathi (panel B).
Panel B reprinted with permission from Fathi et al. [2010].
Polyorchidism: See Testis, supernumerary
Pubic hair, hypotrichosis of: See Pubic hair, sparse

Pubic hair, Sparse

Definition: Apparently decreased number of hairs per unit area Comments: Both the sac and rugae are absent. This finding
relative to the pubertal development as judged by other compo- may be accompanied by an (Apparently) absent testis and Crypt-
nents of pubertal maturity (Fig. 24) subjective orchidism [Janoff and Skoog, 2005], which should be coded
Comments: (Pubic) hypotrichosis should not be used as a separately.
synonym as, formally, it means underdevelopment of the hair.
No normal values for the number of hairs per unit area exist.
Replaces: Pubic hair, thinning; Pubic hair, thin; Pubic Scrotum, Accessory
hypotrichosis Definition: Additional scrotum, or part of a scrotum in an abnor-
Pubic hair, thin(ning): See Pubic hair, sparse mal location (Fig. 26). objective
Comments: An accessory scrotum is typically located on the
perineum, frequently associated with perineal lipoma, and occa-
Scrotum, Absent sionally with Hypospadias or Bifid penis, which should be coded
Definition: Absence of scrotal sac (Fig. 25). objective separately.
1250 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FIG. 24. Sparse pubic hair (in a pubertal male).

Scrotum, Bifid
Definition: Midline indentation or cleft of the scrotum (Fig. 27). FIG. 26. Accessory scrotum. Courtesy of Dr. Paval Ganesan
objective (panel A) and Dr. Zoran Gucev (panel B). Panel B reprinted with
Comments: A testis may or may not be present in each half of the permission from Gucev et al. [2010].
scrotum.
Scrotum, doughnut: See Penoscrotal transposition

Scrotum, Ectopic Comments: This term is distinguished from Accessory scro-

tum, as there is no significant scrotal tissue in the normal position
Definition: Scrotum in a position other than the usual position in ectopic scrotum. This definition excludes the finding of Peno-
inferior to the base of the penis (Fig. 28). objective scrotal transposition or Overriding scrotum. Usually the scrotum
is split and there is unilateral ectopia. The ectopic scrotum is
typically located supra-inguinally, but may be located elsewhere
such as on the upper thigh. A testis is commonly present in the
ectopic scrotum. Ectopic scrotum can be accompanied by Chordee
or Bifid penis [Hoar et al., 1998], which should be coded
separately, and by renal and non-urogenital malformations
Scrotum, hypoplastic: See Scrotum, small
Scrotum, hypotrophic: See Scrotum, small
Scrotum, Overriding: See Scrotum, shawl
Scrotum, prepenile: See Penoscrotal transposition

Scrotum, Shawl
FIG. 25. Absent scrotum.
Definition: Superior margin of the scrotum superior to the base of
the penis (Fig. 29). subjective
HENNEKAM ET AL. 1251

Comments: A congenital overriding scrotum may disappear

with growth and development, especially during puberty. If the
entire scrotum is located superior to the penis, the term Penoscrotal
transposition is used instead.
Synonym: Overriding scrotum

Scrotum, Small
Definition: Apparently small scrotum for age (Fig. 30). subjective
Comments: A small scrotum is often accompanied by Cryptor-
chidism which should be coded separately. The size of the scrotum
is dependent on the ambient temperature: a low temperature may
cause the testes to retract, leading to the false impression of a small
scrotum.
Synonym: Scrotum, underdeveloped
Replaces: Scrotum, hypotrophic; Scrotum, hypoplastic
Scrotum, underdeveloped: See Scrotum, small

Testis, (Apparently) Absent

Definition: Testis not palpable in the scrotum or inguinal canal.
objective
Comments: Absence can be congenital or not (vanishing testis).
Definitive assessment can only be made by imaging or surgical
studies, in order to exclude an intra-abdominal testis, which should
be coded as Cryptorchidism. True absence of a testis can be difficult
to prove. Anorchia is true absence of both testes, and can only be
determined by imaging or surgical studies.

Testis, enlarged: See Testis, large

Testis, hyperplastic: See Testis, large
Testis, hypertrophic: See Testis, large
Testis, hypoplastic: See Testis, small
Testis, hypotrophic: See Testis, small

Testis, Large
Definition: Size of the testis more than 2 SD above the mean for age
(Fig. 31). objective OR
Apparently increased size of the testis for age. subjective
Comments: Details on measurement of the testis can be found
elsewhere [Hall et al., 2007]. This is in fact a bundled term indicating
an increase in testis length and width but is retained here because of
its utility and the availability of objective normal values.
Synonym: Macro-orchidism; Testis, overdeveloped
Replaces: Testis, hyperplastic; Testis, hypertrophic, Testis
enlarged
Testis, overdeveloped: See Testis, large

Testis, Small
FIG. 27. Bifid scrotum. Note that in panels A and B the scrotum Definition: Size of the testis more than 2 SD below the mean for age
shows only a mild indentation and in panel C the scrotum is (Fig. 32). objective OR
completely bifid. Apparently decreased size of the testis for age. subjective
Comments: Details on measurement of the testis can be found
elsewhere [Hall et al., 2007].
1252 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FIG. 28. Ectopic scrotum (panel a courtesy of Dr. Zoran Gucev, panel b courtesy of Dr Stefanos Gardikis). Panel A reprinted with permission
from Gucev et al. [2010]. Panel B reprinted with permission from Gardikis et al. [2012].

Synonym: Testis, underdeveloped Comments: Urologists use a subclassification of supernumerary

Replaces: Testis, hypoplastic; Testis, hypotrophic testes [Bergholz and Wenke, 2009]. A supernumerary testis may
reside in the abdomen, but this is not included in the present
definition as it cannot be determined by physical examination. A
Testis, Supernumerary supernumerary testis can be difficult to distinguish from a large
Definition: More than two testes present in a hemi-scrotum or one epididymis. Triorchidism is sometimes used to describe a single
inguinal canal (Fig. 33). objective supernumerary testis.

FIG. 29. Shawl scrotum. Note only partly overriding scrotum in panel A and complete overriding in panel B.
FIG. 30. Small scrotum.

FIG. 31. Large testis.

FIG. 33. Supernumerary testis (two testes in left hemiscrotum

indicated by arrows). Courtesy of Dr. Ali Feyzullah Şahin.
FIG. 32. Small testis (in a pubertal boy). Reprinted with permission from Yalcinkaya et al. [2011].
1254 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Synonym: Polyorchidism Clitoris: Cap-shaped organ supero-anterior to the entrance of

the vagina, partly covered by a foreskin (hood). The size of the
Testis, underdeveloped: See Testis, small
clitoris depends on whether it is erect or flaccid.
Testis, undescended: See Cryptorchidism Clitoral foreskin (hood): Skin fold overriding and partially
covering the glans of the clitoris and inferioposteriorly continuous
with the labia minora.
FEMALE EXTERNAL GENITALIA Clitoral frenula: Small elastic tissue folds covered by mucous
membranes running from the glans of the clitoris to the labia
Anatomy of the Female External Genitalia minora.
Normal anatomy of the female external genitalia is shown in Figure Hymen: Epithelial fold partly covering the inferior opening of
34. Some anatomical landmarks deserve specific mention as these the vagina. The virginal hymen has an opening that is variable in
are not always used consistently. size, shape, and position (Fig. 35).
Labia majora: Two relatively broad soft tissue skin-covered Vagina: Hollow organ ending inferiorly at the vulval vesti-
swellings running alongside one another inferoposteriorly, bule (introitus) between the labia minora, and superiorly at
in close proximity anteriorly at the mons pubis (sometimes the cervix of the uterus. The vagina is collapsed most of the
called anterior commissure) and joining at the posterior time.
commissure. They encircle the vulval vestibule, which contains Vulva: Region delimited by the labia majora and containing
the urethra and vagina. In young girls the skin is smooth the labia minora, clitoris, urethral meatus, and introitus. The
and only slightly hyperpigmented, but the skin gradually vulval vestibule (introitus) is the region between the labia
undergoes further hyperpigmentation, hair growth and rugae minora.
formation. The inner part is covered by thin skin and mucous
membrane and contains many sebaceous glands.
Labia minora: Two relatively narrow, hairless soft tissue Puberty
swellings medial to the labia majora, covered with mucous mem- The timing of puberty varies greatly in the general population
branes, running inferoposteriorly from the base of the clitoris to and is influenced by genetic and environmental factors [Gajdon
fuse posteriorly at the fourchette. There is marked variation in size et al., 2009]. In evaluating the pubertal development, ethnic
of the labia minora, and, in postpubertal females, they often background and intra-familial variation should be taken
protrude beyond the labia majora. into account. Tanner stages are used to score pubertal development
Interlabial sulci: the regions between the inner parts of the labia
[Marshall and Tanner, 1969; Tanner, 1986]. In females the
majora and outer parts of the labia minora.
stages are determined by the size of the breasts and nipples,
pigmentation and rugae formation of the labia, and pubic and
axillary hair growth (Fig. 36). As each of these components is
defined here separately, the pubertal stages are not discussed in
further detail.

Measurements of the Female External Genitalia

Measurement of the clitoris is the only measurement of female
external genitalia commonly used in the clinic. Measurements of
the clitoris are possible using sliding calipers, or a straight-edged
plastic ruler. Reliability of measurements using a tape measure is
poor. Length is measured from the base of the clitoris at the pubic
symphysis to the tip without including the foreskin. Fat pads at the
base of the clitoris influence this measurement and the ruler
should be pressing against the pubic ramus. The reader is referred
to the Handbook of Normal Physical Measurements [Hall
et al., 2007] for detailed descriptions of measurement techniques
and growth standards. Except for pubertal developmental
stages growth standards are provided for Caucasians of Northern
European origin only.

Anatomical Variation
Anomalies of the female external genitalia may be classified into
FIG. 34. Anatomy of female external genitalia. quantitative (objective or anthropometric) traits and qualitative
(subjective or categorical) features:
HENNEKAM ET AL. 1255

Investigating the genitalia should always be performed with the

observed person in a relaxed position. The presence of a nurse or parent
is advisable. Small children are best investigated in their parent’s lap.
Repeated genital examinations may be embarrassing for the subject
[Lee et al., 2006] and should be performed only when indicated.

DEFINITIONS
Clitoris, Bifid
Definition: Two clitorides located side by side (Fig. 37). objective
Comments: The word bifid indicates the presence of a split
clitoris, as opposed to a supernumerary clitoris, which could be
described as Duplicated clitoris. A bifid clitoris is almost invariably
accompanied by Epispadias, which should be coded separately.

Clitoris, Duplicated
Definition: A supernumerary clitoris (Fig. 38) objective
Comments: A duplicated clitoris is much less common than a
Bifid clitoris, which should be considered first in most cases
[Kurth, 1958].
Synonym: Clitoris, supernumerary
Clitoris, hyperplastic: See Clitoris, large
Clitoris, hypertrophic: See Clitoris, large
Clitoris, hypoplastic: See Clitoris, small
Clitoris, hypotrophic: See Clitoris, small

Clitoris, Large
Definition: Clitoral length more than 2 SD above the mean for age
(Fig. 39). objective OR
Apparently increased length of the clitoris for age. subjective
Comments: Clitoral length is the distance between the attach-
ment of the clitoris anterior to the pubic bone and tip of the clitoris.
Details on measurement of the clitoris can be found elsewhere
[Oberfield et al., 1989; Litwin et al., 1991; Sane and Pescovitz, 1992;
Verkauf et al., 1992; Phillip et al., 1996; Akbiyik and Kutlu, 2010].
Subjective assessment of clitoral size can be confounded by Small
labia majora and therefore objective assessment is preferred. The
FIG. 35. Variation in opening of virginal hymen in newborns. word “large” literally indicates an increase in both width and length,
but in practice only the length of the clitoris is measured.
Synonym: Clitoromegaly; Clitoris, overdeveloped; Clitoris, long
Replaces: Clitoris, hypertrophic; Clitoris, hyperplastic
1. Variations in length and width: large clitoris; small clitoris;
absent labia majora; absent labia minora; large labia majora; Clitoris, long: See Clitoris, large
small labia majora; prominent labia minora. Clitoris, overdeveloped: See Clitoris, large
2. Variations in shape, number, or position: bifid clitoris; dupli-
cated clitoris; fused labia minora; epispadias; hypospadias;
atretic vaginal opening; septated vagina. Clitoris, Small
3. Variations in skin manifestations: freckled genitalia; hyperpig- Definition: Clitoral length more than 2 SD below the mean for age
mented genitalia; hypopigmented genitalia; exaggerated rugos- (Fig. 40). objective OR
ity of the labia majora; sparse pubic hair. Apparently decreased length of the clitoris for age. subjective
Comments: Clitoral length is the distance between the attachment
The various features are listed alphabetically. If a feature is of the clitoris anterior to the pubic bone and tip of the clitoris. Details
indicated in bold-italics, the feature is listed and a definition is on measurement of the clitoris can be found elsewhere [Oberfield
available. The terms are alphabetized based on the physical feature, et al., 1989; Litwin et al., 1991; Sane and Pescovitz, 1992; Verkauf
not the modifier. et al., 1992; Phillip et al., 1996; Akbiyik and Kutlu, 2010]. Subjective
1256 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FIG. 36. Puberty stages females according to Tanner [1986].

assessment of clitoral size can be confounded by obesity and therefore Epispadias is a frequent component of Bladder exstrophy, but
objective assessment is preferred. The word small literally indicates a should be coded separately.
decrease in both width and length, but in practice only the length of the
clitoris is measured.
Synonym: Clitoris, underdeveloped
Replaces: Clitoris, hypotrophic; Clitoris, hypoplastic
Genitalia, Ambiguous
Definition: External genitalia without typical male or female
Clitoris, supernumerary: See Clitoris, duplicated
appearance (Fig. 9). subjective
Clitoris, underdeveloped: See Clitoris, small Comments: Note that this term can include or combine
Clitoromegaly: See Clitoris, large variations in size and shape, with partial or complete absence
of structures. It is preferable to describe the individual components,
which are defined below. It is nonetheless a widely used bundled
Epispadias term and as such is retained here (for the definition of a “bundled
term” see Allanson et al. [2009a]).
Definition: Dorsal placement of the urethral opening (Fig. 37). objective
Synonym: Intersex genitalia
Comments: In a phenotypic female, epispadias may be accom-
panied by a Bifid clitoris, which should be coded separately. Genitalia, ephelides: See Genitalia, freckled
HENNEKAM ET AL. 1257

external genitalia are hyperpigmented. The description should be

qualified by a description of the affected part(s).
Synonym: Genitalia, ephelides

Genitalia, Hyperpigmented
Definition: Localized or generalized increased genital pigmenta-
tion (Fig. 11). subjective
Comments: This is an assessment of the relative pigmentation of
the genitalia compared to the overall pigmentation of the individ-
ual. Hyperpigmentation can affect other parts of the body or be
restricted to the genitalia. Genital hyperpigmentation can be gen-
eralized or localized. It should be differentiated from Freckled
genitalia in which one or more small, focal areas of hyperpigmen-
tation are present. Localized hyperpigmentation can be objectively
determined due to the difference from the immediate surrounding
tissue color, while generalized hyperpigmentation may be more
difficult to determine and is therefore a subjective manifestation. If
the finding is localized, the description should be appended with a
description of the affected part(s).

Genitalia, Hypopigmented
Definition: Localized or generalized decreased genital pigmenta-
tion (Fig. 12). subjective
Comments: This is an assessment of the relative pigmentation
of the genitalia compared to the overall pigmentation of the
FIG. 37. Bifid clitoris. Note the co-occurrence of epispadias. individual. Hypopigmentation can affect other parts of the body
Courtesy of Dr. Anne-Karoline Ebert. Reprinted with permission or be restricted to the genitalia. Genital hypopigmentation can
from Ebert et al. [2009]. be generalized or localized. Localized hypopigmentation can be
objectively determined due to the difference from the immediate
surrounding tissue color, while generalized hypopigmentation
may be more difficult to determine and is therefore a subjective
Genitalia, Freckled manifestation.

Definition: One or more brown punctate macules on the skin of the Genitalia, intersex: See Genitalia, ambiguous
genitalia (Fig. 10). objective
Comments: This should be differentiated from Hyperpigmented Hypospadias
genitalia in which an area larger than a freckle is/the complete
Definition: Urethral meatus located on the anterior vaginal wall
(Fig. 41). objective
Comments: The location of the meatus can be from just above
the introitus up to deep into the vagina near the cervix (fornix).
Female hypospadias can be associated with Bladder exstrophy,
which should be coded separately

Labia Majora, Absent

Definition: No discernable labia majora (Fig. 42). subjective
Comments: None of the three attributes of labia majora is
present: no tissue mass, no hyperpigmentation, no rugae
formation.
Labia majora, hyperplastic: See Labia majora, large
Labia majora, hypertrophic: See Labia majora, large
FIG. 38. Duplicated clitoris. Reprinted with permission from
Kurth [1958]. Labia majora, hypoplastic: See Labia majora, small
Labia majora, hypotrophic: See Labia majora, small
1258 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FIG. 39. Large clitoris.

Labia Majora, Large Labia Majora, Exaggerated Rugosity of the

Definition: Increased volume of the labia majora (Fig. 43). Definition: Marked rugae formation of the skin of the labia majora
subjective (Fig. 44). subjective
Comments: Large labia majora may be accompanied by Hyper- Comments: Some rugae formation is typically found on the labia
pigmented genitalia or Exaggerated rugosity of the labia majora, majora, but less than on the scrotum.
which should be coded separately. Replaces: Scrotum-like labia majora
Synonym: Labia majora, overdeveloped
Labia majora, overdeveloped: See Labia majora, large
Replaces: Labia majora, hypertrophic; Labia majora,
hyperplastic Labia majora, scrotum-like: See Labia majora, exaggerated
rugosity of the

FIG. 41. Hypospadias (a catheter being in hypospadiac opening

high in the anterior vaginal wall). Courtesy of Dr. Amilal Bhat.
FIG. 40. Small clitoris. Reprinted with permission from Bhat et al. [2010].
HENNEKAM ET AL. 1259

FIG. 42. Absent labia majora.

FIG. 43. Large labia majora. Courtesy of Dr. Ariachery Ammini.
Reprinted with permission from Kulshreshtha et al. [2010].

Labia Majora, Small Labia Minora, Absent

Definition: Apparently decreased soft tissue volume of the labia Definition: No recognizable soft tissue folds medial to the labia
majora (Fig. 45). subjective majora (Fig. 46). subjective
Comments: The hyperpigmentation and mild rugae formation
of the labia majora may or may not be decreased. Labia Minora, Fused
Synonym: Labia majora, underdeveloped
Definition: Lack of separation of the labia minora over part or all of
Labia majora, underdeveloped: See Labia majora, small their length (Fig. 47). objective

FIG. 44. Labia majora with mild (a) and more marked (b) rugae formation. Note enlargement of clitoris as well in panel B. Panel a courtesy of
Dr. Ariachery Ammini. Panel a reprinted with permission from Atilgan et al. [2009].
1260 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FIG. 45. Small upper part (panels a and b) and lower part (panel C) of labia majora.

Comments: Fusion is not infrequent in newborn girls and Pubic hair, Sparse
separation may occur spontaneously in the first few years of Definition: Apparently decreased number of hairs per unit area
life. relative to the pubertal development as judged by other compo-
nents of pubertal maturity (Fig. 49) subjective
Comments: (Pubic) hypotrichosis should not be used as a
Labia Minora, Prominent synonym as, formally, it means underdevelopment of the hair.
Definition: Apparent increase in volume of the labia minora No normal values for the number of hairs per unit area exist.
(Fig. 48). subjective Replaces: Pubic hair, thinning; Pubic hair, thin; Pubic
Comments: Variation in the size of labia minora is considerable. hypotrichosis
This is in fact a bundled term as it may indicate an increase of length,
Pubic hair, thin(ning): See Pubic hair, sparse
width and/or thickness, but it is useful in practice and therefore
kept here. Labia minora may appear prominent in the presence of Vagina, Atretic Opening of the
Small labia majora.
Definition: No discernable entrance to the vagina on the vulva
Pubic hair, hypotrichosis: See Pubic hair, sparse (Fig. 50). objective

FIG. 46. Absent labia minora. Note this causes a seemingly

large clitoris which is in fact of normal size. FIG. 47. Fused labia minora. Courtesy of Dr. AKC Leung.
HENNEKAM ET AL. 1261

FIG. 48. Prominent labia minora which is unilateral on the right panel. Panel a courtesy of Dr. Warren Ellsworth, panel b courtesy of
Dr. Charles Malata. Panel a reprinted with permission from Ellsworth et al. [2010]. Panel B reprinted with permission from Solanki et al.
[2010].

Comments: An atretic opening may occur independent Vagina, Septated

of atresia of the remainder of the vagina, which needs Definition: Apparent lateral division of the vagina by a thin tissue
further radiological and/or surgical investigations to wall visible at the introitus (Fig. 51). objective
diagnose. Comments: The term does not indicate the pathogenetic mech-
anism and does not distinguish a double vagina from a septum
within a single vagina. Neither a transverse vaginal septum nor a

FIG. 49. Sparse pubic hair (in a pubertal female). FIG. 50. Atretic opening of the vagina.
1262 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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ACKNOWLEDGMENTS Damon V, Berlier P, Durozier B, François R. 1990. Study of the dimensions
We are pleased to thank Astrid Sibbes, Medical Photography and of the penis from birth to adult age and as a function of testicular volume.
Pediatrie 45:519–522.
Illustration, Academic Medical Centre, Amsterdam for all draw-
ings, and Dr. F.B. Lammes, pediatric gynecologist, for making his Ebert AK, Reutter H, Ludwig M, Rösch WH. 2009. The extrophy–
photography collection available to us. E.V. is partially funded by epispadias complex. Orphanet J Rare Dis 4:23.
the DSD Translational Research Network (NIH grant # 1 R01 El-Koutby M, Amin el Gohary M. 2010. Webbed penis: A new classification.
HD068138), and L.G.B. is supported by the Intramural Research J Indian Assoc Pediatr Surg 15:50–52.
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