학술논문
Case of an unreported genetic variant of salt losing 3-[beta]-hydroxysteroid dehydrogenase deficiency
CASE REPORT
CASE REPORT
Document Type
Academic Journal
Source
Oxford Medical Case Reports. May 2021, Vol. 2021 Issue 5, p165, 3 p.
Subject
Language
English
ISSN
2053-8855
Abstract
INTRODUCTION Congenital adrenal hyperplasia (CAH) results from deficiency of an enzyme that forms [1] cortisol from cholesterol [2]. Left untreated, CAH may lead to life-threatening adrenal crises including hypoglycemia, electrolyte [...]
Salt losing 3-[beta]-hydroxysteroid dehydrogenase deficiency (HSD3B2) is a rare form of congenital adrenal hyperplasia, seen in G; p.His232Asp). This patient was referred to pediatric endocrinology and pediatric biochemical genetics following a fourth hospitalization for emesis and electrolyte derangements including hyponatremia, hyperkalemia, ketoacidosis and hypoglycemia. Endocrinology evaluation yielded elevated 17-hydroxyprogesterone (17-OHP), 17-hydroxypregnenolone (17-OHPreg), dehydroepiandrosterone and adrenocorticotropic hormone (ACTH). ACTH stimulation test indicated flat response. Sequencing of the HSD3B2 revealed a pathogenic variant inherited in trans with the novel c.694C >G (p.His232Asp) variant. The patient was started on daily glucocorticoid and mineralocorticoid replacement and has since had no further adrenal crises.
Salt losing 3-[beta]-hydroxysteroid dehydrogenase deficiency (HSD3B2) is a rare form of congenital adrenal hyperplasia, seen in G; p.His232Asp). This patient was referred to pediatric endocrinology and pediatric biochemical genetics following a fourth hospitalization for emesis and electrolyte derangements including hyponatremia, hyperkalemia, ketoacidosis and hypoglycemia. Endocrinology evaluation yielded elevated 17-hydroxyprogesterone (17-OHP), 17-hydroxypregnenolone (17-OHPreg), dehydroepiandrosterone and adrenocorticotropic hormone (ACTH). ACTH stimulation test indicated flat response. Sequencing of the HSD3B2 revealed a pathogenic variant inherited in trans with the novel c.694C >G (p.His232Asp) variant. The patient was started on daily glucocorticoid and mineralocorticoid replacement and has since had no further adrenal crises.