A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.

doi:10.1007/s12020-021-02914-8

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Article

A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.

Endocrine - 1 Mar 2022

Beştaş Aslı, Bolu Semih, Unal Edip, Aktar Karakaya Amine, Eröz Recep, Tekin Mehmet, Haspolat Yusuf Kenan

Abstract excerpt

AIM: 17α-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are delayed puberty and primary amenorrhea in girls, and disorders of sex development in boys. It can also cause hypertension and hypokalemia in both genders. In this study, we aimed to present the clinical, laboratory and genetic results of 13...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Amenorrhea
Child
Female
Gender Identity
Humans
Male
Mixed Function Oxygenases
Mutation
Puberty, Delayed
Steroid 17-alpha-Hydroxylase

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Open in PubMed

Identifiers

PMID: 34724156
DOI: 10.1007/s12020-021-02914-8

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