Heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A1) can cause transient adrenal insufficiency and life-threatening failure to thrive
| Autor: | Diagoras Zarganis, Christina Bothou, Maria Karantza, Anastasios Papadimitriou, Dimitrios T Papadimitriou |
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| Rok vydání: | 2017 |
| Předmět: |
Adult
Male medicine.medical_specialty Endocrinology Diabetes and Metabolism Mutation Missense 030209 endocrinology & metabolism 03 medical and health sciences Exon Fathers 0302 clinical medicine Internal medicine medicine Adrenal insufficiency Missense mutation Humans Cholesterol Side-Chain Cleavage Enzyme 030219 obstetrics & reproductive medicine business.industry Cholesterol side-chain cleavage enzyme Siblings Infant Newborn Adrenal crisis Autosomal dominant trait Infant General Medicine medicine.disease Failure to Thrive Endocrinology Failure to thrive Pregnenolone Female medicine.symptom business medicine.drug Adrenal Insufficiency |
| Zdroj: | Hormones (Athens, Greece). 17(3) |
| ISSN: | 2520-8721 |
| Popis: | The first and rate-limited step of steroidogenesis in all steroidogenic tissues is the conversion of cholesterol to pregnenolone, catalysed by P450scc side-chain cleavage enzyme (CYP11A1 gene—SCC). SCC deficiency has been characterised as an autosomal recessive disorder, although it may also be inherited as an autosomal dominant trait in humans. Here, we describe a family of three members carrying the same novel heterozygous CYP11A1 mutation, a c.235G > A missense variant in exon 1: pVal79Ile. A 46 XY boy (P1) was presented at the age of 3 months with early onset adrenal insufficiency and life-threatening failure to thrive, with low adrenal androgens but normal external genitalia. Five years later, the parents had twin girls, one of whom (P2) presented acute adrenal crisis a few hours after birth. The father (P3), born at term, was reported as having suffered from failure to thrive during the neonatal period, though not his only male sibling. This report of severe early adrenal insufficiency caused by a heterozygous mutation of the CYP11A1 gene clearly demonstrates that SCC deficiency may be inherited as an autosomal dominant trait in humans. |
| Databáze: | OpenAIRE |
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