Positive neonatal screening test for congenital adrenal hyperplasia in a case with 3β-Hydroxysteroid dehydrogenase type 2 deficiency

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dc.contributor.authorAnik, Merve
dc.contributor.authorErdogan, Deniz
dc.contributor.authorBaris, Tugba
dc.contributor.authorArslanoglu, Ilknur
dc.contributor.authorCanbaz, Aylin Tugba
dc.contributor.authorGuran, Tulay
dc.date.accessioned2026-07-01T11:39:37Z
dc.date.available2026-07-01T11:39:37Z
dc.date.issued2026
dc.departmentDüzce Üniversitesi
dc.description.abstractObjectives The neonatal CAH screening test is mainly performed for early detection of and avoidance of mortality due to salt-wasting crises related to severe 21-hydroxylase deficiency. 3 beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency is a rare subtype of CAH that leads to salt-wasting crises. To present a case of HSD3B2 deficiency with a positive neonatal CAH screening test, emphasizing the role of newborn screening in early diagnosis.Case presentation A 46,XY newborn who assigned female at birth, was admitted on the fifth postnatal day due to atypical genitalia. His neonatal CAH screening test subsequently resulted positive. Low cortisol and aldosterone levels, elevated adrenocorticotropic hormone (ACTH), hyponatremia, and hyperkalemia were detected. Steroid hormone profile suggested a diagnosis of HSD3B2 deficiency, and subsequent genetic testing revealed compound heterozygous variants in the HSD3B2 gene. Electrolyte balance was achieved with hydrocortisone and fludrocortisone replacement therapy.Conclusions The neonatal CAH screening test offers an extra advantage in guiding early diagnosis and treatment of patients with rare salt-wasting forms of CAH, such as HSD3B2 deficiency in countries where these conditions are relatively more common.
dc.identifier.doi10.1515/jpem-2025-0403
dc.identifier.endpage198
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issue2
dc.identifier.orcid0000-0002-8536-2072
dc.identifier.orcid0000-0003-2658-6866
dc.identifier.pmid41111433
dc.identifier.scopus2-s2.0-105019706972
dc.identifier.scopusqualityQ2
dc.identifier.startpage193
dc.identifier.urihttps://doi.org/10.1515/jpem-2025-0403
dc.identifier.urihttps://hdl.handle.net/20.500.12684/23361
dc.identifier.volume39
dc.identifier.wosWOS:001596032800001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWalter de Gruyter Gmbh
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolism
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20260623
dc.subject3 Beta-Hydroxysteroid Dehydrogenase Deficiency
dc.subjectCongenital Adrenal Hyperplasia
dc.subjectAtypical Genitalia
dc.subjectDsd
dc.subjectPrimary Adrenal Insufficiency
dc.titlePositive neonatal screening test for congenital adrenal hyperplasia in a case with 3β-Hydroxysteroid dehydrogenase type 2 deficiency
dc.typeArticle

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