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Article

A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2012

Battistin Claudilene, Menezes Filho Hamilton Cabral de, Domenice Sorahia, Nishi Mirian Yumie, Della Manna Thais, Kuperman Hilton, Steinmetz Leandra, Dichtchekenian Vaê, Setian Nuvarte, Damiani Durval

Abstract excerpt

We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency. Adrenoleukodystrophy was excluded. MRI showed normal pituitary and...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DAX-1 Orphan Nuclear Receptor

Share to Genetic Diseases, X-Linked

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PMID: 23295288
DOI: 10.1590/s0004-27302012000800006

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A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.PMID 23295288Read ↗

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.Semantic proximity Read ↗

Neglected Adrenal Hypoplasia Congenita in Two Siblings with Novel Genetic Mutations in NR0B1 Gene and Notable Clinical Course: A Case Report.Semantic proximity Read ↗

[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia].Semantic proximity Read ↗

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Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.Semantic proximity Read ↗

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A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism.Semantic proximity Read ↗

A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.Semantic proximity Read ↗

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