Intersex disorders

Question 1

What are the intersex disorders?

Answer 1

Group of disorders where there is descrepancy between internal/external genitalia and sex on karyotype

Question 2

What is the aetiology of intersex disorders?

Answer 2

· CAH: 46XX, excessive steroid produciton leading to male features.

· AIS: 46XY, with malfunctioning androgen receptors therefore development of female characteristics not inhibited.

· True hermaphroditism: Both ovarian and teticular tissue, karyotype 46XX.

Question 3

What is the epidemiology of intersex disorders?

Answer 3

CAH most common, 1/15k. AIS 1/20k. True hermaphroditism <10%.

Question 4

What is the history and exam of intersex disorders?

Answer 4

Varied. Amenhorrea primary. Ambiguous genitalia at birth. Neonatal electrolyte abnormalities in some CAH. Infertility.

Ambiguous genitalia dn II sex characteristics

Question 5

What is the pathology of intersex disorders?

Answer 5

· CAH: AR gene mutation (usually partial 21aHOX deficiency)

· AIS: AndrogenRec mutation

· TH: translocaiton of portion of Y chromosome onto X chromosome (therefore male genes expressed in 46XX individual)

Question 6

What are the Ix of intersex disorders?

Answer 6

Depends on presentation. Karyotypings, hormone analysis (LH, FSH, testosterone, 17OHPROG), pelvic USS.

Question 7

What is the management of intersex disorders?

Answer 7

Depends on underlying condition. Hormone replacement, gender assignment, counselling, remove gonads, surgical management of ambiguous genitalia.

Question 8

What is the Complications/Prognosis of intersex disorders?

Answer 8

Electrolyte (CAH), psychological, risk of gonadal malignancy.