Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency—Case Report and Literature Overview
Bibliographic Data
| ID | 15714468 |
|---|---|
| Authors | Zuzanna Nowak (0000-0002-5907-9943, Jagiellonian University), Ewelina Preizner-Rzucidło (Jagiellonian University), Jakub Gawlik (University Hospital, 30-688 Krakow, Poland), Jerzy Starzyk (0000-0002-4086-6525, Jagiellonian University), Jerzy B Starzyk (Department of Pediatric and Adolescent Endocrinology, Institute of Pediatrics, Jagiellonian University Medical College, 30-663 Krakow, Poland), Dominika Januś (0000-0002-3870-368X, Jagiellonian University, corresponding author) |
| Year | 2024 |
| Volume | 11 |
| Issue | 10 |
| Pages | 1231-1231 |
| Publication date | 2024-10-12 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children11101231 |
| PMID | 39457196 |
| OpenAlex | W4403401686 |
| Language | EN |
| References cited | 36 |
CYP11A1 (P450scc) deficiency is a rare and complex disorder that leads to primary adrenal insufficiency and may present with 46, XY disorders of sex development (DSD), phenotypic variations, and associated endocrinological abnormalities. This case, along with others cited, highlights the diverse presentations of DSD in individuals with pathogenic CYP11A1 variants. Optimal management necessitates a multidisciplinary approach by a specialized DSD team. Gonadectomy is a key consideration to decrease the teratogenic risk associated with intra-abdominal gonadal tissue
Adrenal insufficiency · Biology · Cholesterol side-chain cleavage enzyme · Gene · Phenotype · Primary Adrenal Insufficiency · Hormonal and reproductive studies · Hormonal Regulation and Hypertension · Medicine · Sexual Differentiation and Disorders · Genetics · Internal Medicine
The Genome Analysis Toolkit
A global reference for human genetic variation
Fast and accurate short read alignment with Burrows–Wheeler transform
Standards and guidelines for the interpretation of sequence variants
A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development
| Highly cited | No |
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