Pseudohermaphroditism Clinical Trial
To disclose the molecular pathology of our 3 families with 17βHSD3 deficiency.
17βhydroxysteroid dehydrogenase 3 (17βHSD3) deficiency is a rare cause of male
pseudohermaphroditism. The incidence is reported to be 1: 147,000 in the Netherlands. Fewer
than one hundred affected 46, XY males were reported in the literature, and no such case has
been reported in Taiwan before. The 46, XY patients have ambiguious or complete female
external genitalia. They are mostly unrecognized at birth and reared as female. They often
draw medical attention when they receive operation for inguinal hernia or during puberty,
clitoromegaly and musculization were noticed. However, the homozygous or compound
heterozygous genetic females are asymptomatic. The 17βHSD3 catalyze the conversion of
androstenedione to testosterone, the last step in the synthesis of testosterone. Therefore,
the serum levels of androstenedione are elevated and testosterone or dihydrotestosterone are
in the low range in these affected 46, XY individuals. The clinical diagnosis is made by HCG
stimulation test, because androstenedione-to-testosterone ratio is abnormally elevated in
these patients. But the molecular basis of 17βHSD3 deficiency was not determined till recent
decade.
The HSD17B3 gene was elucidated in 1994, and composed of 11 exons. Several missence mutation
and splice mutation were identified. But the precise action and tissue distribution of
17βHSD3 still need to be clarified. The Wölffian ducts virilze normally in the embryonic
stage and the serum concentration of testosterone achieve to the normal range in the
pubertal stage. The exact mechanism is not understood clearly and peripheral conversion
under other isozymes was suggested in some studies.
The purpose of this study is to disclose the molecular pathology of our 3 families with
17βHSD3 deficiency.
;
Observational Model: Defined Population, Primary Purpose: Screening, Time Perspective: Cross-Sectional
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT00172510 -
Mutation Analysis of 17α-Hydroxylase
|
N/A |