ArticleAnnals of pediatric endocrinology & metabolism2021
Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita.
Article in Annals of pediatric endocrinology & metabolism, 2021. 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, 5 citations in OpenAlex.
- Xp21 contiguous gene deletion syndrome presenting as congenital adrenal hypoplasia: molecular diagnosis and clinical re-evaluation of a pedigree.Frontiers in endocrinology · 2026Article
- A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita.Annals of pediatric endocrinology & metabolism · 2024Article
- 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
- Treatment of congenital hypogonadotropic hypogonadism in male patients.Annals of pediatric endocrinology & metabolism · 2022Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
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Abstract
X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disorder. Patients with adrenal hypoplasia congenita are usually diagnosed with primary adrenal insufficiency in infancy or early childhood and present hypogonadotropic hypogonadism during adolescence. Our patient first presented with adrenal crisis at the age of 2 months, which was managed with glucocorticoids and mineralocorticoids. At the age of 17 years, testicular volumes of 5 mL each and a stretched penile length of 4 cm were noted. A combined pituitary function test showed a peak luteinizing hormone level of 2.68 mIU/mL, testosterone 13.5 ng/dL, confirming hypogonadotropic hypogonadism. After whole-exome sequencing, a new variant of DAX-1, c.881T>C (p.Leu294Pro), was found. He was diagnosed with X-linked adrenal hypoplasia congenita and then treated with human choriogonadotropin for the induction of spermatogenesis as well as with steroid replacement therapy.
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