Familial partial 17,20-desmolase and 17alpha-hydroxylase deficiency presenting as infertility.
OBJECTIVE
Females with 17alpha-hydroxylase/17,20-desmolase deficiency normally present with amenorrhea, sexual infantilism, hypertension, and hypokalemia. We report on a new clinical presentation of this combined enzymatic defect.


METHODS
Four Jewish women from two unrelated families presented with primary infertility. All patients exhibited a normal phenotype, blood pressure, and serum potassium levels with abnormally high follicular phase serum progesterone and low E2 levels. In order to characterize the underlying defect, the following steps were undertaken: 1) ovarian suppression by GnRH agonist, 2) adrenal suppression by dexamethasone, 3) ovarian stimulation by gonadotropins, 4) adrenal stimulation by ACTH, 5) hormonal assessment of follicular fluid aspirates, and 6) assessment of in vitro E2 production by luteinized granulosa cells.


RESULTS
The clinical characteristics and endocrine testing results support the diagnosis of a partial deficiency in 17alpha-hydroxylase/17,20-desmolase activities, shared by the adrenal gland and the ovaries


CONCLUSIONS
Female infertility can be the first and sole clinical manifestation of this enzymatic defect. Its exact nature and prevalence remain to be determined.
Levran
David
D
In Vitro Fertilization Unit, Edith Wolfson Medical Center, Holon 58100, Israel.
Ben-Shlomo
Izhar
I
Pariente
Clara
C
Dor
Jehoshua
J
Mashiach
Shlomo
S
Weissman
Ariel
A
D000311:Adrenal Glands / Q000201:enzymology* / Q000503:physiopathology; D000858:Anovulation / Q000150:complications; D002582:Cervix Mucus / Q000378:metabolism; D004958:Estradiol / Q000097:blood; D005260:Female; D005498:Follicular Phase / Q000502:physiology; D006801:Humans; D007247:Infertility, Female / Q000235:genetics* / Q000503:physiopathology*; D008297:Male; D010053:Ovary / Q000201:enzymology* / Q000503:physiopathology; D010375:Pedigree; D011374:Progesterone / Q000097:blood; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics / Q000378:metabolism*
D011374:Progesterone; D004958:Estradiol; D013254:Steroid 17-alpha-Hydroxylase