Professional Documents
Culture Documents
Dr Mohd Maghayreh
PRTH /IRBID
AMBIGUOUS GENITALIA \ CONTINUE
■ Maternal conditions
➣ Use of birth control pills after conception
➣ Maternal virilization (androgen-secreting tumors)
➣ Maternal exposure to androgens, progestins or other meds
(seizure meds)
■ Assoc conditions
➣ Turner syndrome: female phenotype w/ streak gonads
➣ Klinefelter syndrome: micropenis w/ small testes
➣ Camptomelic dwarfism (XY gonadal dysgenesis)
➣ Denys-Drash syndrome
Nephropathy, genital abnormalities &Wilms’ tumor
➣ Congenital adrenal hyperplasia
AMBIGUOUS GENITALIA \ CONTINUE
Signs
■ If gonad descended & palpable, most likely testis or, rarely, ovotestis
■ If gonads not palpable in scrotum, check inguinal canal
■ Rectal exam: uterus palpable in females during 1st 48 h of life due
to maternal estrogen
■ Intersex problem should be suspected in apparent males w/:
➣ Micropenis (<2.0 cmin terminfant)
➣ Bilateral cryptorchidism, especially impalpable testes
➣ Bifid scrotum
➣ Severe hypospadias
➣ Any hypospadias with undescended testicle
■ Intersex problem should be suspected in apparent females w/:
AMBIGUOUS GENITALIA \ CONTINUE
tests
■ Serumelectrolytes
■ Expedited karyotype
■ Abd US for presence/absence of uterus
➣ Presence of uterus indicates bilateral ovaries or dysgenetic
gonads that failed to produceMullerian inhibiting substance
■ 17-hydroxyprogesterone, androstenedione & serum testosterone
(T) (obtained between 24–48 h)
➣ Decreased levels of testosterone
Leydig cells deficient
Luteinizing hormone (LH) activity impaired
Testosterone biosynthetic defect
➣ Markedly elevated 17-hydroxyprogesterone, androstenedione,
& testosterone w/ 21-hydroxylase deficiency (CAH)
■ Genitography
➣ To determine anatomy of urethra, vagina
➣ To assess presence/absence of urogenital sinus
■ HCG stimulation test
➣ Useful to assess for presence/absence of testicular tissue or to
diagnose testosterone biosynthetic defect
AMBIGUOUS GENITALIA \ CONTINUE
■ Additional studies
➣ XX infant w/Mullerian ducts
17-hydroxyprogesterone
11-deoxycortisol
Cortisol
Renin
17-hydroxypregnenolone
Testosterone
➣ XX infant w/oMullerian ducts
Testosterone
Estradiol (E2)
Luteinizing hormone
Follicle-stimulating hormone (FSH)
SRY
➣ XY infant w/Mullerian ducts
Testosterone
Estradiol
Luteinizing hormone
Follicle-stimulating hormone
➣ XY infant w/oMullerian ducts
AMBIGUOUS GENITALIA \ CONTINUE
➣ Maternal androgens
Exogenous (i.e., medication)
Endogenous (i.e., androgen-secreting
tumors)
■ Male pseudohermaphroditism
➣ Karyotype 46 XY
➣ Defective virilization
➣ NoMullerian organs (MIS intact)
➣ Etiologies
AMBIGUOUS GENITALIA \ CONTINUE