Article: Can Digenic, Tri-Allelic Inheritance of Variants in
2022 Volume 13, Page(s) 860055
Abstract: An eight-year old South Asian boy presenting with progressive hyperpigmentation was found to have primary adrenal insufficiency (PAI) in the form of isolated glucocorticoid deficiency. Follow up of this boy for nine years, until the age of 17 years ... ...
| Abstract | An eight-year old South Asian boy presenting with progressive hyperpigmentation was found to have primary adrenal insufficiency (PAI) in the form of isolated glucocorticoid deficiency. Follow up of this boy for nine years, until the age of 17 years showed normal pubertal onset and progression. Molecular evaluation, by targeted next generation sequencing of candidate genes linked to PAI revealed changes in two genes that are intricately linked in the early stages of steroid biosynthesis: compound heterozygous variants in |
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| MeSH term(s) | Addison Disease/genetics ; Adolescent ; Adrenal Insufficiency/genetics ; Alleles ; Child ; Cholesterol Side-Chain Cleavage Enzyme/genetics ; Glucocorticoids ; Humans ; Male ; Phosphoproteins/genetics |
| Chemical Substances | Glucocorticoids ; Phosphoproteins ; steroidogenic acute regulatory protein ; Cholesterol Side-Chain Cleavage Enzyme (EC 1.14.15.6) |
| Language | English |
| Publishing date | 2022-03-28 |
| Publishing country | Switzerland |
| Document type | Case Reports ; Journal Article |
| ZDB-ID | 2592084-4 |
| ISSN | 1664-2392 |
| ISSN | 1664-2392 |
| DOI | 10.3389/fendo.2022.860055 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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