Genital System - Abnormalities

Introduction

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.

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Congenital adrenal hyperplasia

• impairment of cortisol production by the adrenal cortex, is one of the most common causes of intersex genitalia at birth
• genetically male (XY) infants born with undervirilized genitalia (androgen insensitivity syndrome, cloacal exstrophy) are generally assigned and reared as girls.

Cryptorchidism

Cryptorchidism

• 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.

Testis descent is thought to have 2 phases:

1. transabdominal descent - dependent on insulin-like hormone 3 (INSL3).
2. inguinoscrotal descent - dependent on androgens.

Undescended Ovaries

• 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.

Hydrocele

• 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).

Tract Abnormalities

Uterine abnormalities

Unicornate uterus

Many different forms

• Uterine: associated with other anomolies, unicornuate uterus
• Vagina: agenesis, atresia
• Ductus Deferens: Unilateral or bilateral absence, failure of mesonephric duct to differentiate

Uterine Duplication (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.

Septate Uterus

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.

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

References

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Search Pubmed: Cardiovascular System Development

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Cite this page: Hill, M.A. (2024, April 27) Embryology Genital System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genital_System_-_Abnormalities

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G