A Case of Male-Pseudohermaphroditism due to 17-beta-hydroxysteroid Dehydrogenase Deficiency with Multiple Osteoporosis.
- Author:
Sae Chang BANG
1
;
Jae Ho HA
;
Jin Ho KIM
;
So Jeung KIM
;
Kyung Rok SEUNG
;
Jong Hyun CHOI
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine, Konkuk University, Korea.
- Publication Type:Case Report
- Keywords:
Male pseudohermaphroditism;
17beta-hydroxysteroid dehydrogenase deficiency
- MeSH:
46, XY Disorders of Sex Development;
Adult;
Amenorrhea;
Androstenedione;
Estradiol;
Estrogens;
Female;
Genitalia;
Gynecological Examination;
Humans;
Male;
Osteoporosis*;
Oxidoreductases*;
Testosterone;
Uterus;
Vagina
- From:Korean Journal of Obstetrics and Gynecology
1997;40(9):2097-2104
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A 37-year-old woman was admitted for chief complaints about primary amenorrhea and multiple bone pains. She was raised phenotypically female but her chromosomal study was no-rmal male karyotype(46 XY). On pelvic examination, she showed relatively normal female ex-ternal genitalia except short blind-ending vagina. There were also no uterus and tubes in operation field. Even though rare disorder, she was diagnosed male pseudohermaphroditism due to 17-beta -hydroxysteroid dehydrogenase deficiency. This disorder is the most common enzyme defect in biosynthesis of testosterone and involves the last step. The serum level of sex steroid: test osterone, estradiol were decreased and FSH, LH were increased. Androstenedione was increased and we could obtain that Androstenedione / Testosterone ratio was increased. Because of 17-beta-HSD deficiency, estrogen was not converted to estradiol, and so estradiol was markedly decreased. Same as above, we experienced a case of male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase deficiency with multiple osteoporosis. So we report this case with a brief review of literatures.
