ArticleCurrent medical science2020
A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.
Article in Current medical science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Delayed Diagnosis of X-Linked Adrenal Hypoplasia Congenita in a Boy with a NovelChildren (Basel, Switzerland) · 2025Article
- Neglected Adrenal Hypoplasia Congenita in Two Siblings with Novel Genetic Mutations in NR0B1 Gene and Notable Clinical Course: A Case Report.Endocrine, metabolic & immune disorders drug targets · 2024Article
- Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology.Endocrine · 2023Review
- Case report: Clinical characteristics and treatment of secondary osteoporosis induced by X-linked congenital adrenal dysplasia.Frontiers in endocrinology · 2022Article
- The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency.International journal of molecular sciences · 2021Review
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6 authors at 1 institution in 1 country.
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Abstract
X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism (HH) at puberty, arising from mutations of the nuclear receptor subfamily 0 group B member 1 (NR0B1) gene. This study investigated an extended family with two affected males (patient A: 23 years and patient B: 2 months old) and three carrier females. Sequencing analysis of the NR0B1 gene coding region from the family revealed a novel hemizygous deletion [c.604delT; p.(C202Afs*62)] in the two male patients. Furthermore, the patients' respective mothers and their common grandmother had this heterozygous mutation, but it was not present in the Human Gene Mutation Database. The two male patients showed inconsistent clinical features at onset, particularly in early childhood; however, it is possible that the younger patient will eventually show a delay of puberty, feminisation, and nonspermatogenesis in adulthood, similar to that in the older patient. Identification of a novel NR0B1 mutation in this family is important for the diagnosis and genetic counselling of children with primary adrenal insufficiency and HH, and will be helpful for predicting long-term clinical symptoms.
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