A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.

doi:10.1016/j.ando.2014.11.003

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Article

A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.

Annales d'endocrinologie - 1 Feb 2015

Guenego Agathe, Morel Yves, Ionesco Oana, Mallet Delphine, Priou-Guesdon Melanie

Abstract excerpt

17α-Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia. It leads to a reduced production of cortisol and sex steroids and thus an increase in adrenocorticotrophic hormone and gonadotrophins levels. High adrenocorticotrophic hormone levels result in an accumulation of 17-deoxysteroids, such as deoxycorticosterone and corticosterone. Deoxycorticosterone and corticosterone have an important...

Topics

Adrenal Hyperplasia, Congenital
Aged
Amenorrhea
Codon, Nonsense
Female
Humans
Hypertension
Hypogonadism
Hypokalemia
Karyotyping
Mosaicism
Mutation
Osteoporosis
Steroid 17-alpha-Hydroxylase
Turner Syndrome

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PMID: 25613935
DOI: 10.1016/j.ando.2014.11.003

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