ArticleEuropean journal of pediatrics2009
A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita.
Article in European journal of pediatrics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism.Journal of the Endocrine Society · 2021Article
- Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation inThe Journal of international medical research · 2020Article
- Adrenal hypoplasia congenita in identical twins.Saudi medical journal · 2019Article
- Primary adrenal insufficiency caused by a novel mutation in DAX1 gene.Journal of clinical research in pediatric endocrinology · 2013Article
- X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.European journal of pediatrics · 2012Article
- A young boy with diffuse hyperpigmentation and delayed puberty.European journal of pediatrics · 2011Article
- Diagnosis of diseases of steroid hormone production, metabolism and action.Journal of clinical research in pediatric endocrinology · 2009Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. A novel DAX1 (NR0B1) gene mutation was detected in a Turkish newborn boy presenting with primary adrenal insufficiency. He was from a family with a history of unexplained death of three male siblings in the neonatal period. This report highlights the value of mutational analysis of the DAX1 gene for definitive diagnosis of AHC as well as for genetic counselling because this disorder shows an X-linked genetic pattern of transmission, providing the possibility of finding new cases even in presymptomatic individuals.
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