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KMID : 0358419930360020241
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Korean Journal of Obstetrics and Gynecology
1993 Volume.36 No. 2 p.241 ~ p.252
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A Case of Male Pseudohermaproditism Due to 17,20-Desmolase Deficiency
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배현미
강윤철/이우호/홍서유
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Abstract
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A 23-year-old phenotypic female with 46, XY genotype presented an unusual form of male pseudohermaphroditism. Seemingly a normal woman, the patient failed to undergo pubertal changes presenting without pubic har, axillary hair, breast
development,
and
me nache. Neither uterus nor adnexae were palpable above the blind vaginal canal through rectal examination. Serum testosterone and estradiol were barely detectable by RIA, while LH and FSH reched castrated levels. Plasma dehydroepiandrosterone
sulfate(DHEA-S) and androstenedione(ADD) concentrations were low. Two small testes and appendages were removed from the pelvic sidewalls which showed atrophy of Sertoli cells and clusters of Leydig cells without malignant change on biopsy. This
male
pseudohermatphroditism probably was derived from deficiency of 1720-desmolase according to the chromosome study, the hormonal assay and the biopsy. Congenital deficiency of enzymes necessary for testosterone biosynthesis is an uncommon aetiology
of
male
pseudohermaphroditism. So we reported this case with a brief review of the literatures.
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KEYWORD
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