Open AccessCase of an unreported genetic variant of salt losing 3-β-hydroxysteroid dehydrogenase deficiency
Author(s) -
Einas H Alkhatib,
Stacie D. Adams,
E. R. Miller
Publication year - 2021
Publication title -
oxford medical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.169
H-Index - 9
ISSN - 2053-8855
DOI - 10.1093/omcr/omab021
Subject(s) - congenital adrenal hyperplasia , medicine , endocrinology , hyponatremia , hyperkalemia , mineralocorticoid , glucocorticoid , adrenocorticotropic hormone , hormone
Salt losing 3-β-hydroxysteroid dehydrogenase deficiency (HSD3B2) is a rare form of congenital adrenal hyperplasia, seen in <0.5% of cases. We present a 7-year-old male diagnosed with HSD3B2 deficiency, not identified by state newborn screen, due to a novel variant identified in the HSD3B2 gene (c.694C > 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.