Genital System - Abnormalities
|Embryology - 2 Dec 2023 Expand to Translate|
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How and why do things go wrong in development?
Human genital abnormalities are currently described as "Disorders of Sex Development" (DSD) and includes: chromosomal, gonadal dysfunction, tract abnormalities, external genitalia and gonadal descent. The genital system is closely associated developmentally and anatomically with the renal system, often called the "urogenital system", therefore abnormalities of renal development should also be considered when studying this topic.
- The earlier term "intersex" and a variety of other previously applied terms related to genetic abnormalities have been replaced by the term "Disorders of sex development" (DSD).
Some Recent Findings
|More recent papers|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
|These papers originally appeared in the Some Recent Findings table, but as that list grew in length have now been shuffled down to this collapsible table.
Human Genital Development Critical Periods
Disorders of Sex Development
|The previous human sex development terminology (true hermaphrodites, male pseudohermaphrodites and female pseudohermaphrodites) are considered outdated and stigmatising and have been replaced with the general term Disorders of Sex Development (DSD) established by the Consensus statement on management of intersex disorders. See also the Medical Journal of Australia 2009 editorial article.||
|Contribution of AMH to DSD differential diagnosis|
International Classification of Diseases
Structural developmental anomalies of the male genital system - Micropenis or penis agenesis | Penile megalourethra | Diphallia | Penoscrotal transposition | Anorchia or microorchidia | Cryptorchidism | Hypospadias | Congenital chordee | Epispadias | Bifid scrotum | Agenesis of vas deferens | Absence or aplasia of prostate | Absence or aplasia of spermatic cord | Absence or aplasia of seminal vesicles | Polyorchidism | Meatal stenosis of penis | Hypoplasia of testis or scrotum | Genitoperineal median raphe cyst
Structural developmental anomalies of the female genital system - Structural developmental anomalies of vulva | Structural developmental anomalies of clitoris | Structural developmental anomalies of vagina | Structural developmental anomalies of cervix uteri | Structural developmental anomalies of uterus, except cervix | Structural developmental anomalies of ovaries, fallopian tubes or broad ligaments | Hydrocele of the canal of Nuck
Sex Chromosome Abnormalities
|ICD-11 Karyotype 47,XXX - Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). Most individuals are only mildly affected or asymptomatic, the most common physical features including tall stature, epicanthal folds, hypotonia and clinodactyly, with seizures, renal and genitourinary abnormalities, and premature ovarian failure being also associated findings.|
Trisomy X is a caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). This is also the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births with some individuals are only mildly affected or asymptomatic. It is estimated that only 10% of individuals with trisomy X are actually diagnosed. Common physical features include: tall stature, epicanthal folds, hypotonia and clinodactyly. Other physical features include: neural (seizures), renal and genitourinary abnormalities, and premature ovarian failure (POF) (see review.
Trisomy X karyotype
- Links: Trisomy X
|ICD-11 Turner syndrome - Karyotype missing one X chromosome (45, X0 or 45,XO/46,XX mosaicism) ; gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotrophic hypogonadism), absence of sexual development, webbed neck, low set ears, posterior hairline, widely-spaced nipples, short fourth metacarpals, and increased carrying angle at the elbow (cubitus valgus). Often associated with renal, cardiac and ocular abnormalities.|
Turner syndrome or Monosomy X (45,X) feature include gonadal dysgenesis and short stature. Named after Henry Turner, an American clinician who first described (1938) the syndrome.
Turner syndrome karyotype (45,X)
|ICD-11 Klinefelter syndrome - Klinefelter syndrome defines a group of chromosomal disorders in which there is at least one extra X chromosome compared with the normal 46,XY male karyotype. The effects on physical features and on physical and cognitive development increase with the number of extra X's, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15-16 points, with language most affected, particularly expressive language skills.|
Klinefelter syndrome (47,XXY) caused by an additional X chromosome (or more) in affected males> Named after Harry F. Klinefelter who first described (1942) the syndrome. Common physical features include reduced fertility and hypogonadism. Some individuals are only mildly affected or asymptomatic and the severity varies greatly between individuals.
Congenital Adrenal Hyperplasia
|ICD-11 Congenital adrenal hyperplasia - Congenital adrenal hyperplasia (CAH) refers to a group of diseases associated with either complete (classical form) or partial (non-classical) anomalies in the biosynthesis of adrenal hormones. The disease is characterized by insufficient production of cortisol, or of aldosterone (classical form with salt wasting), associated with overproduction of adrenal androgens. In the classical form, metabolic decompensation (dehydration with hyponatremia, hyperkalemia and acidosis associated with mineralocorticoid deficiency, and hypoglycemia associated with glucocorticoid deficiency) may be life-threatening from the neonatal period onwards. Genital anomalies may be noted at birth in affected females.|
The adrenal abnormality of congenital adrenal hyperplasia (CAH) is an impairment of cortisol production by the adrenal cortex, is one of the most common causes of DSD genitalia at birth
- genetically male (XY) infants born with undervirilized genitalia (androgen insensitivity syndrome, cloacal exstrophy) are generally assigned and reared as girls.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency can be prenatally diagnosed in utero through molecular genetic analysis of fetal DNA. Prenatal treatment by dexamethasone administration to the at-risk pregnant mother has been shown to be effective in reducing genital virilization in the fetus, avoiding unnecessary postnatal genitoplasty in affected females.
There has been recorded a prevalence of reduced fecundity in men with congenital adrenal hyperplasia, related to testicular adrenal rest tumours and poor semen parameters.
Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A, is the most common form of CAH, accounting for more than 90% of cases
Deficiency of 17-hydroxylase is the less common form of CAH.
|Congenital Adrenal Hyperplasia|
|classic virilizing adrenal hyperplasia||21-hydroxylase, 11-beta-hydroxylase,
or 3-beta-hydroxysteroid dehydrogenase
|ambiguous genitalia at birth - complete or partial fusion of the labioscrotal folds and a phallic urethra to clitoral enlargement (clitoromegaly), partial fusion of the labioscrotal folds, or both||normal genitalia, present at age 1-4 weeks with salt wasting (classic salt-wasting adrenal hyperplasia)|
|simple virilizing adrenal hyperplasia||mild 21-hydroxylase||identified later in childhood because of precocious pubic hair, clitoral enlargement (clitoromegaly), or both, often accompanied by accelerated growth and skeletal maturation||early genital development (pubic hair and/or phallic enlargement) accelerated growth and skeletal maturation|
|nonclassic adrenal hyperplasia||milder deficiencies of 21-hydroxylase
or 3-beta-hydroxysteroid dehydrogenase
|present at puberty or adult with infrequent menstruation (oligomenorrhea), abnormal hair growth (hirsutism), and/or infertility|
|17-hydroxylase deficiency syndrome||17-hydroxylase deficiency or
|rare, phenotypically female at birth do not develop breasts or menstruate in adolescence and may have hypertension||steroidogenic acute regulatory (StAR) deficiency have ambiguous genitalia or female genitalia, at puberty may lack breast development and may have hypertension|
|This is a complex steroidogenic abnormality, and the above table of clinical descriptions are provided only a guide.|
Also called the Prader scale, a clinical classification system used to describe virilization of female genitalia, mainly associated with the congenital adrenal hyperplasia (CAH). Two normal (Stage 0 – Normal female genitalia; Stage 6 – Normal male genitalia) and five distinct abnormal stages ( 1 to 5 increasing virilisation). Named after Dr. Andrea Prader (1919 – 2001) an endocrinologist who also discovered the Prader-Willi syndrome and developed a second male testis development scale the Orchidometer.
|Stage 0||Normal female genitalia.|
|Stage 1||Mildly enlarged clitoris, slightly reduced vaginal opening, usually within normal variations.|
|Stage 2||Abnormal genitalia clearly seen by eye, phallus being intermediate in size, small vaginal opening with separate urethral opening. Posterior labial fusion present.|
|Stage 3||Further enlarged phallus than Stage 2, with single urogenital sinus and nearly complete fusion of the labia.|
|Stage 4||Upon examination, looks more male than female, with an empty scrotum and a normal-sized penis-like phallus, however this structure is not quite as free from the perineum to be pulled onto the abdomen towards the umbilicus. A small urethral/vaginal opening at the base of the shaft/phallus (hypospadias in a male), with an x-ray showing the internal connection with the upper vagina and uterus.|
|Stage 5||Complete male virilisation, a normally-formed penis is present. Urethral opening at or near the tip, and the scrotum formed, but empty. Internal organs in the pelvis include normal ovaries and uterus, with the vagina connecting internally with the urethra (as in Stage 4). Newborn infants are not seen to be visibly ambiguous, and are assumed to be normal boys (with undescended testes). The diagnosis of CAH is not apparent until signs of salt-wasting develop, about a week later.|
|Stage 6||Normal male presentation of the penis with normal testes.|
|Links: Genital - CAH | Adrenal - CAH | Female | Genital System - Abnormalities | Genital Terms|
Androgen Insensitivity Syndrome
There is a database (Androgen Receptor Gene Mutations) of 1,029 reported androgen receptor mutations. Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 people.
A recent article has also looked in cell culture at the androgen receptor interacting proteins.
- Partial androgen insensitivity syndrome - (PAIS) associated with impaired male genital development that can be transmitted through mutations in the androgen receptor.
|ICD-11 LB52 Cryptorchidism - A disorder affecting males, caused by an abnormality occurring in sex development during the antenatal period. This disorder is characterized by the absence of one or both testes from the scrotum. This disorder may also present with reduced fertility, psychological implications, or increased risk of testicular germ cell tumours. Confirmation is by imaging, karyotyping, or identification of male sex hormones in a blood sample.|
The failure of testis descent is common abnormality in eutherian mammals. The external location of the testes in the scrotum acts as a local thermo-regulator and provides a temperature environment below that of the general body temperature. This thermal function is essential for normal spermatogenesis and cryptorchidism therefore affects fertility.
- Abnormality of either unilateral or bilateral testicular descent, occurring in up to 30% premature and 3-4% term males.
- Descent may complete postnatally in the first year, failure to descend can result in sterility.
- Undescended testis has a higher risk of the anatomical anomalies testicular appendices, epididymal anomalies, and processus vaginalis.
- True undescended testis — testis lies along the expected path of descent but has never been present in the scrotum
- Ectopic testis — testis is palpated in a location outside the normal path of descent, such as the perineum or femoral area
- Ascending testis — previously descended testis that no longer lies within the scrotum. A peak incidence occurs around 10 years of age (affects 1-2%) and may also occur as a complication of inguinal hernia surgery in children.
Clinically exposed suprascrotal testis
Testis descent is thought to have 2 phases:
- transabdominal descent - dependent on insulin-like hormone 3 (INSL3).
- inguinoscrotal descent - dependent on androgens.
Management of cryptorchidism in children: guidelines. "Cryptorchidism is best diagnosed clinically, and treated by surgical orchiopexy at age 6-12 months, without a routine biopsy. If no testis is palpable, or if other signs of hypovirilisation such as hypospadias are present, the chromosomal sex and hormonal status must be assessed. Laparoscopy is the best way of diagnosing and managing intra-abdominal testes."
- reasonably rare gonad abnormality, often detected following clinical assessment of fertility problems and may also be associated with other uterine malformations (unicornuate uterus).
- Due to the relative positions of the male (external) and female (internal) gonads and the pathways for their movement, failure of gonad descent is more apparent and common in male cryptorchidism than female undescended ovaries.
GB00 Hydrocele or spermatocele - A condition characterized by an accumulation of serous fluid in the tunica vaginalis testis or along the spermatic cord, and cystic swelling containing fluid and dead spermatozoa of the testicular epididymis, rete testis or efferent ductuli. Hydrocele of the canal of Nuck
- Male Hydrocele is a fluid-filled cavity of either testis or spermatic cord, where peritoneal fluid passes into a patent processus vaginalis.
- Female Hydrocele is a similar, but rarer, fluid-filled cavity occuring in the female as a pouch of peritoneum extending into the labium majorum (canal of Nuck).
Anogenital Distance (AGD) is a clinical measurement of a parameter that is sexually dimorphic for genital development. This distance, from the posterior aspect of the scrotum to the anal verge, has been used as a marker for endocrine disruption in animal studies and may also be shorter in infant males with genital anomalies (More? see related references)
|A recent study in humans has shown that infertile men possessed significantly shorter mean AGD than fertile men.
- Uterus - associated with other anomolies, unicornuate uterus
- Vagina - agenesis, atresia
- Ductus Deferens - Unilateral or bilateral absence, failure of mesonephric duct to differentiate
- Links: uterus abnormalities
Bicornuate uterus containing conceptus chorionic sac with placental cord on one side.
(uterus didelphys, double uterus, uterus didelphis) A rare uterine developmental abnormality where the paramesonephric ducts (Mullerian ducts) completely fail to fuse generating two separate uterus parts each connected to the cervix and having an ovary each.
Cervical: cervical agenesis, cervical duplication
Vaginal: Mayer-Rokitansky syndrome (MRK anomaly, Rokitansky-Küster-Hauser syndrome, RKH syndrome, RKH) congenital absence of the vagina, dyspareunia, vaginal agenesis.
Persistent Müllerian Duct Syndrome
Persistent Müllerian Duct Syndrome (PMDS) men are genotypic and externally phenotypic males with cryptorchidism, sometimes associated with inguinal hernia.
- transverse testicular ectopia - one testis descends into the scrotum pulling the ipsilateral Fallopian tube into the inguinal canal (hernia uteri inguinalis).
- bilateral cryptorchidism - the uterus is fixed in the pelvis and both testes are embedded in the broad ligament in ovarian position.
Polycystic Ovary Syndrome
(PCOS) or Stein–Leventhal syndrome (1930s researchers) a metabolic syndrome with many other symptoms, ovarian cysts arise through incomplete follicular development or failure of ovulation. For review see It has recently been suggested (NIH workshop 2012) that the name "Polycystic Ovary Syndrome" is not appropriate for the condition and should be renamed.
- Links: ovary abnormalities
Hypospadias are the most common penis abnormality (1 in 300) and result from a failure of male urogenital folds to fuse in various regions. This in turn leads to resulting in a proximally displaced urethral meatus. The cause is unknown, but suggested to involve many factors either individually or in combination including: familial inheritance, low birth weight, assisted reproductive technology, advanced maternal age, paternal subfertility and endocrine-disrupting chemicals. Maternal hypertension during pregnancy has also been shown to double the risk and a pregnancy diet lacking meat and fish also show an increase in hypospadias. Infants with hypospadias should not undergo circumcision.
Mouse models have shown that deletion of Fgfr2 or its ligand Fgf10 results in severe hypospadias. Fgfr2 was expressed in two epithelial populations, the endoderm-derived urethral epithelium and the ectoderm-derived surface epithelium and urethral tubulogenesis, prepuce morphogenesis, and sexually dimorphic patterning of the lower urethra were controlled by discrete regions of Fgfr2 activity.
|Anterior||glandular||urinary meatus that opens at the site of the frenulum||A|
|Coronal||coronal||urinary meatus opens in the ventral portion of the coronal sulcus||B|
|Distal||penile||urinary meatus that opens along the shaft of the penis||C|
|Penoscrotal||penoscrotal||urinary meatus opens where the shaft of the penis meets the scrotum||D|
|Scrotal||scrotal||urinary meatus that opens on the scrotum||E|
|Perineal||perineal||urinary meatus that opens in the perineum||F|
|Table reference Links: hypospadias | 'ICD-11 Hypospadias|
Depending on the class of hypospadias there are a number of different surgical repair techniques including: orthoplasty or penile straightening, urethroplasty, meatoplasty and glanuloplasty, scrotoplasty (oscheoplasty) and skin coverage.
Related Genetic Conditions
- Johanson-Blizzard syndrome - hypospadias, failure to thrive, exocrine pancreatic deficiency, short stature and developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypothyroidism, myxomatous mitral valve, and patent ductus arteriosus.
Rare abnormality resulting from fusion of the splenic and gonadal primordia during prenatal development. On the left side and more common in male and adhesion to the gonad, epididymis or ductus deferens and then follows the caudal descent with the gonad. Failure of complete descent can also result in associated intraabdominal cryptorchism.
- continuous - orthotopic spleen connects to the gonad with a cord of fibrous or splenic tissue.
- discontinuous - no connection between the orthotopic spleen and gonad.
- Links: Spleen Development
Adult male testis abnormality associated with the deposition of multiple tiny calcifications throughout the testes (usually bilateral), detected by ultrasound. Present in up to 5.6% of the general adult population between 17 and 35 years of age. Also present in about 50% of men with a germ cell tumour.
- Bird AD, Croft BM, Harada M, Tang L, Zhao L, Ming Z, Bagheri-Fam S, Koopman P, Wang Z, Akita K & Harley VR. (2020). Ovotesticular disorders of sex development (DSD) in FGF9 mouse models of human synostosis syndromes. Hum. Mol. Genet. , , . PMID: 32452519 DOI.
- León NY, Reyes AP & Harley VR. (2019). Differences of sex development: the road to diagnosis. Lancet Diabetes Endocrinol , , . PMID: 30803928 DOI.
- Caprio MG, Di Serafino M, De Feo A, Guerriero E, Perillo T, Barbuto L, Vezzali N, Rossi E, Ferro F, Vallone G & Orazi C. (2019). Ultrasonographic and multimodal imaging of pediatric genital female diseases. J Ultrasound , , . PMID: 30778893 DOI.
- Krege S, Eckoldt F, Richter-Unruh A, Köhler B, Leuschner I, Menzel HJ, Moss A, Schweizer K, Stein R, Werner-Rosen K, Wieacker P, Wiesemann C, Wünsch L & Richter-Appelt H. (2018). Variations of sex development: The first German interdisciplinary consensus paper. J Pediatr Urol , , . PMID: 30713084 DOI.
- Dar SA, Nazir M, Lone R, Sameen D, Ahmad I, Wani WA & Charoo BA. (2018). Clinical Spectrum of Disorders of Sex Development: A Cross-sectional Observational Study. Indian J Endocrinol Metab , 22, 774-779. PMID: 30766817 DOI.
- Murase K, Murase J, Machidori K, Mizuno K, Hayashi Y & Kohri K. (2018). Nationwide Increase in Cryptorchidism after the Fukushima Nuclear Accident. Urology , , . PMID: 29751027 DOI.
- Kasai F & Ferguson-Smith MA. (2018). A collection of XY female cell lines. Hum. Cell , , . PMID: 29330774 DOI.
- Burcharth J, Pedersen M, Bisgaard T, Pedersen C & Rosenberg J. (2013). Nationwide prevalence of groin hernia repair. PLoS ONE , 8, e54367. PMID: 23342139 DOI.
- Eisenberg ML, Hsieh MH, Walters RC, Krasnow R & Lipshultz LI. (2011). The relationship between anogenital distance, fatherhood, and fertility in adult men. PLoS ONE , 6, e18973. PMID: 21589916 DOI.
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Evaluation and Treatment of Cryptorchidism. Penson DF, Krishnaswami S, Jules A, Seroogy JC, McPheeters ML. Rockville (MD): Agency for Healthcare Research and Quality (US); 2012 Dec. PMID 23326894
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
- DSD Consortium Guidelines | Handbook for Parents
- EuroDSD EuroDSD programme is a collaboration of doctors and scientists from all over Europe. Long-term outcome studies on the various DSD entities are desperately needed in order to establish a basis for evidence-based medicine regarding sex assignment and conservative and surgical treatment options.
- German DSD network
- Italian registry for DSD
- Intersex Society of North America
- Turner Syndrome Society of the U.S.
- Androgen Receptor Gene Mutations Database
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Cite this page: Hill, M.A. (2023, December 2) Embryology Genital System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genital_System_-_Abnormalities
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