A case of 17 alpha-hydroxylase deficiency / 대한생식의학회지
Clinical and Experimental Reproductive Medicine
;
: 72-76, 2015.
Article
in English
| WPRIM
| ID: wpr-34094
ABSTRACT
17alpha-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17alpha-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the excessive levels of mineralocorticoids lead to volume expansion and hypertension. Females with 17alpha-hydroxylase deficiency are characterized by primary amenorrhea and delayed puberty, with accompanying hypertension. Affected males usually have female external genitalia, a blind vagina, and intra-abdominal testes. The treatment of this disorder is centered on glucocorticoid and sex steroid replacement. In patients with 17alpha-hydroxylase deficiency who are being raised as females, estrogen should be supplemented, while genetically female patients with a uterus should also receive progesterone supplementation. Here, we report a case of a 21-year-old female with 17alpha-hydroxylase deficiency who had received inadequate treatment for a prolonged period of time. We also include a brief review of the recent literature on this disorder.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Progesterone
/
Puberty, Delayed
/
Steroids
/
Testis
/
Uterus
/
Vagina
/
Corticosterone
/
Hydrocortisone
/
Steroid 17-alpha-Hydroxylase
/
Adrenocorticotropic Hormone
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Clinical and Experimental Reproductive Medicine
Year:
2015
Type:
Article
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