A case of 17 alpha-hydroxylase deficiency.
10.5653/cerm.2015.42.2.72
- Author:
Sung Mee KIM
1
;
Jeong Ho RHEE
Author Information
1. Saint Mary's Women's Hospital, Daegu, Korea.
- Publication Type:Case Report
- Keywords:
17 alpha-Hydroxylase deficiency;
Amenorrhea;
Delayed puberty;
Hypertension
- MeSH:
Adrenocorticotropic Hormone;
Amenorrhea;
Androgens;
Corticosterone;
Estrogens;
Female;
Genitalia;
Humans;
Hydrocortisone;
Hypertension;
Male;
Mineralocorticoids;
Progesterone;
Puberty, Delayed;
Steroid 17-alpha-Hydroxylase*;
Steroids;
Testis;
Uterus;
Vagina;
Young Adult
- From:Clinical and Experimental Reproductive Medicine
2015;42(2):72-76
- CountryRepublic of Korea
- Language:English
-
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.
