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converted to androstenedione (and 16α-hydroxy androstenedione) by the pla-
cental enzyme 3β-HSD1, which is aromatized to estrone (E1) by the enzyme
placental aromatase. The placental 17 β-HSD1 converts estrone into active
estrogens, estradiol (E2) and estriol (E3). In patients with placental aromatase
defi ciency, accumulation of fetal adrenal androgens results in virilization of
46,XX fetus and the mother. The severity of virilization of fetus varies from
isolated clitoromegaly to Prader stage 4. During peripubertal period, affected
females present with primary amenorrhea, poor breast development, hirsut-
ism, virilization, hypergonadotropic hypogonadism, and tall stature. Affected
males have persistent linear growth, eunuchoidal body proportions, genu val-
gum, and impaired fertility.- A 32 - year - old male presented with primary infertility and erectile dysfunction.
On evaluation , he was well virilized and had normal proportions ( upper seg-
ment to lower segment ratio 0.97 ) with sexual maturation score of A +, P 5 and
testicular volume of 4 – 6 ml bilaterally. Hormonal profi le showed LH
6.9 mIU / ml , FSH 14.1 mIU / ml , and testosterone 7.1 nmol / L. Semen analysis
showed azoospermia and fi ne needle aspiration cytology was consistent with
Sertoli cell - only syndrome. How to evaluate further?
The index patient had primary gonadal failure, predominantly germ cell,
as evidenced by high FSH, high normal LH, and low testosterone. The
important causes of predominant germ cell failure include Klinefelter’s
syndrome, cryptorchidism, orchitis, postradiation/chemotherapy, Sertoli
cell-only syndrome, Y chromosome microdeletion, and FSH receptor
polymorphism. Therefore, any patient with predominant germ cell failure
(elevated FSH) where cause is not evident should have a karyotype analy-
sis to exclude the diagnosis of Klinefelter’s syndrome. Hence, the index
patient was subjected for karyotype analysis which revealed XX male
syndrome (Fig. 9.19 ).9 Disorders of Sex Development