Clin Exp Reprod Med.  2015 Jun;42(2):72-76. 10.5653/cerm.2015.42.2.72.

A case of 17 alpha-hydroxylase deficiency

• Kim SM
• Rhee JH

• KMID: 1879368
• DOI: http://doi.org/10.5653/cerm.2015.42.2.72

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.

Keyword

17 alpha-Hydroxylase deficiency; Amenorrhea; Delayed puberty; Hypertension

MeSH Terms

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
Adrenocorticotropic Hormone
Androgens
Corticosterone
Estrogens
Hydrocortisone
Mineralocorticoids
Progesterone
Steroid 17-alpha-Hydroxylase
Steroids