Jakub Gawlik
Biographic Data
| ID | 8256945 |
|---|---|
| NAME | Jakub Gawlik |
| GIVEN NAMES | Jakub |
| FAMILY NAME | Gawlik |
| SIGNATURE | GAWLIK J |
| AFFILIATIONS | University Hospital, 30-688 Krakow, Poland |
| VERIFIED | No |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2024 |
| LATEST PUBLICATION YEAR | 2024 |
| H-INDEX | 0 |
Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency—Case Report and Literature Overview
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 t…
No prominent works on this page.
Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency—Case Report and Literature Overview
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 t…
Adrenal insufficiency (1 work) · Biology (1 work) · Cholesterol side-chain cleavage enzyme (1 work) · Gene (1 work) · Genetics (1 work) · Hormonal and reproductive studies (1 work) · Hormonal Regulation and Hypertension (1 work) · Internal Medicine (1 work) · Medicine (1 work) · Phenotype (1 work)