A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation
Author:
Publisher
Elsevier BV
Subject
Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism
Reference14 articles.
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2. Genetics of congenital adrenal hyperplasia;Krone;Best Pract Res Clin Endocrinol Metab,2009
3. Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome;Biglieri;J Steroid Biochem,1979
4. Disorders of steroid 17 alpha-hydroxylase deficiency;Kater;Endocrinol Metab Clin North Am,1994
5. The genetics, pathophysiology, and management of human deficiencies of P450c17;Auchus;Endocrinol Metab Clin North Am,2001
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1. Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p. Gly303Asp) by Genotyping a Chinese Patient with 46, XY 17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying Lesion;Discovery Medicine;2024
2. Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype;Endocrinology, Diabetes & Metabolism Case Reports;2023-04-01
3. Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance;American Journal of Medical Genetics Part A;2018-08-06
4. 17α-Hydroxylase Deficiency is an Underdiagnosed Disease: High Frequency of Misdiagnoses in a Large Cohort of Brazilian Patients;Endocrine Practice;2018-02
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