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

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.

Authors

İlknur Arslanoğlu (ORCID: https://orcid.org/0000-0002-4975-9718)
Tülay Güran (ORCID: https://orcid.org/0000-0003-2658-6866)
Tugba Baris
Deniz Erdoğan (ORCID: https://orcid.org/0000-0002-0796-8095)
Aylin Tugba Canbaz
Merve Anik

Institutions

İstanbul Gelişim Üniversitesi (TR)
Düzce Üniversitesi (TR)
Marmara University (TR)

Publication Details

Journal: Journal of Pediatric Endocrinology and Metabolism
Published: 2025-10-20
DOI: https://doi.org/10.1515/jpem-2025-0403
Primary Topic: Sexual Differentiation and Disorders
Type: article
Field-Weighted Citation Impact: 0.00

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article

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

İlknur Arslanoğlu, Tülay Güran, Tugba Baris, Deniz Erdoğan et al.

Oct 20, 2025

Journal of Pediatric Endocrinology and Metabolism

Sexual Differentiation and Disorders

article

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

İlknur Arslanoğlu, Tülay Güran, Tugba Baris, Deniz Erdoğan, Aylin Tugba Canbaz, Merve Anik

October 20, 2025article en

Abstract

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.

Journal of Pediatric Endocrinology and MetabolismVol. 39(2)

İstanbul Gelişim Üniversitesi (TR), Düzce Üniversitesi (TR), Marmara University (TR)

Openalex Percentile: Top 74%

Sexual Differentiation and Disorders

DOI Source OpenAlex

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Positive neonatal screening test for congenital adrenal hyperplasia in a case with 3β-hydroxysteroid dehydrogenase type 2 deficiency — İlknur Arslanoğlu, Tülay Güran, et al. · Journal of Pediatric Endocrinology and Metabolism (2025) | TGRS Research Map | TGRS