Positive neonatal screening test for congenital adrenal hyperplasia in a case with 3β-Hydroxysteroid dehydrogenase type 2 deficiency
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Merve Anik
Abstract
Objectives
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. 3β-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.
Acknowledgments
We are deeply grateful to the patient, his family, and healthy participants without whom this study could not have been performed.
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Research ethics: The Ethical Committee of Duzce University approved the study. Written informed consent was obtained from the parents to share clinical findings and results. All procedures were carried out in accordance with the principles of the Declaration of Helsinki.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Author contributions: TG and MA designed the study. TG, MA, ATC, IA and DE clinically characterized the patient. TG, MA, and IA conducted and analyzed biochemical and hormonal measurements. TG, MA and ATC prepared the draft manuscript. All authors contributed to the discussion of results and edited and approved the final manuscript. The authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interest: Authors state no conflict of interest.
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Research funding: None declared.
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