Persistent labial fusion

Chief complaint A 9 y/o girl was brought by her mother with persistent labial fusion. Description She was born at term and was the second child. No family or medical history. Vitals All vitals were normal. Lab reports Examination shows she have bilateral undescended gonads. Pelvic ultrasound shows testicular appearance of gonads and no uterus. She was born at term and was the second child. No family or medical history. The investigations shows a 46, XY karyotype. The serum hormone level is given below. How this case should be investigated further?

(Edited)

3 Likes

LikeAnswersShare

Case of androgen insensitivity syndrome, needs counselling and psychological support, let her develop as a female, gonadectomy to be done as high risk of gct but postpone until puberty ,reconstruction of vagina to be done before marriage, hrt after gonadectomy till the age of menopause.

46 xy has both x& y in each cell Pt has genitalia uterus non functioning ovaries Gonads also present has to remove surgically chances of cancer in later life Female is xx This case she has to brought up as female harmone Reconstructive surgery is advisable

Dht & testosterone low compare to male adenostrenoid high in favour of pcos
0

View 2 other replies

SUGGESTIVE OF FEMALE. WITH C A I S THEY. CAN. ... HOWEVER...RESPOND TO.. .. ESTROGENS... ..THAT. THEIR. TESTES. PRODUCE.. AND THEY. DEVELOP. PHYSICALLY AS. FEMALES.....AND. UNDERGO FEMINIZING. PUBERTY

How the SONOLOGIST diagnosed a Testicular appearance of Gonad , " Surprising" Think of also Partial Turner syndrome/ Mixed gonadal dysgenesis, and evaluate accordingly.

Androgen insensitivity syndrome. Needs reassurance and counciling. Surgical intervention required to reconstruct Vagina and HRT can be useful.

Thanks Dr Dinesh Gupta
0

Cases that would interest you