A 17 year old girl present with bilateral inguinal hernia. on usg absent of uterus & ovary, what is diagnosis? (AIIMS Nov. 2011)
|B||Androgen insensitivity syndrome|
|D||Mayer rokitansky kuster hauser|
Androgen insensitivity syndrome
The syndrome is divided into two main categories:
1. Complete AIS
2. Incomplete AIS
a. Complete androgen insensitivity syndrome (causing testicular feminization) Syndromes of androgen insensitivity involve a failure of the end organ (external genitalia and prostate) in a 46,XY gonadal male fetus to respond to appropriately produced levels of DHT. Some patients are receptor negative… cannot bind DHT. Another variant is receptor positive in which receptors apparently permit DHT binding, but DHT does not lead to normal differentiation toward the male phenotype. Inheritance appears to be X-linked. Inguinal hernias are common in testicular feminization,
b. Despite a 46, XY karyotype and gonads with the typical appearance of testes (perhaps altered similarly to those with cryptorchidism), a feminine gender assignment is unquestionable because of the completely feminine phenotype and because end-organ failure prevents endocrinologically produced masculinization.
c. Confirmation of the diagnosis is crucial because the syndrome is associated with a significant incidence of gonadal malignancies. Malignant tumors are termed germinomas or, more properly, seminomas because the tumors arise in a testis. The youngest reported age of occurrence was 14 years.
d. Overall frequency of gonadal malignancies is approximately 6%, with incidence rising to more than 30% by age 50 years. Sertoli cell and Leydig cell tumors have been reported. Tubular cell adenomas, also fairly frequent, have a potential for malignancy because neoplastic transformation has been reported.
e. Disagreement exists on the best timing for gonadectomy.
f. Most recommend gonad removal after puberty.
Partial androgen insensitivity syndrome:
a. These patients demonstrate a spectrum of external genitalia ranging from
b. Very feminine (eg, Lubs syndrome)
c. To increasingly masculine (eg, Gilbert-Dreyfus syndrome) z
d. To most masculine (eg, Reifenstein syndrome).