Aneta Gawlik
Biographic Data
| ID | 7624433 |
|---|---|
| NAME | Aneta Gawlik |
| GIVEN NAMES | Aneta |
| FAMILY NAME | Gawlik |
| SIGNATURE | GAWLIK A |
| AFFILIATIONS | Medical University of Silesia |
| ORCID | 0000-0002-9309-4741 |
| VERIFIED | Yes |
| TOTAL WORKS | 3 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 3 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2015 |
| LATEST PUBLICATION YEAR | 2021 |
| H-INDEX | 0 |
A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development
A novel CYP11A1 : c.1236 + 5G > A was identified, expanding the mutation spectrum of the congenital adrenal insufficiency with 46,XY sex reversal. In a now 17-year-old girl delivered full-term (G2P2, parents unrelated), adrenal failure was diagnosed in the first year of life based on clinical picture of acute adrenal crisis with vomiting, dehydration, weight loss, hypotension, and electrolyte disturbances. At the time, hormonal tests revealed pri…
Early Feminizing Genitoplasty in Girls with Congenital Adrenal Hyperplasia (CAH)—Analysis of Unified Surgical Management
Early feminizing genitoplasty in girls with congenital adrenal hyperplasia, irrespective of virilization severity, gives satisfactory cosmetic results and is characterized by low and acceptable surgical risk. Nevertheless, the most important determinant of the effectiveness of such management would be future patients' satisfaction
Social abilities are not disturbed in obese adolescent girls
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Social abilities are not disturbed in obese adolescent girls
Early Feminizing Genitoplasty in Girls with Congenital Adrenal Hyperplasia (CAH)—Analysis of Unified Surgical Management
Early feminizing genitoplasty in girls with congenital adrenal hyperplasia, irrespective of virilization severity, gives satisfactory cosmetic results and is characterized by low and acceptable surgical risk. Nevertheless, the most important determinant of the effectiveness of such management would be future patients' satisfaction
A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development
A novel CYP11A1 : c.1236 + 5G > A was identified, expanding the mutation spectrum of the congenital adrenal insufficiency with 46,XY sex reversal. In a now 17-year-old girl delivered full-term (G2P2, parents unrelated), adrenal failure was diagnosed in the first year of life based on clinical picture of acute adrenal crisis with vomiting, dehydration, weight loss, hypotension, and electrolyte disturbances. At the time, hormonal tests revealed pri…
Internal Medicine (2 works) · Medicine (2 works) · Sexual Differentiation and Disorders (2 works) · Adrenal crisis (1 work) · Adrenal Hormones and Disorders (1 work) · Adrenal insufficiency (1 work) · Adrenocortical carcinoma (1 work) · Allele (1 work) · Androgen (1 work) · Biology (1 work)