Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening

Pediatric Endocrinology, Diabetes, and Metabolism · 5 authors, 4 centres

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Treatment with hydrocortisone and fludrocortisone was initiated following confirmation via hormonal tests and genetic analysis.

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This case report details two female neonates born at term who were discharged without suspicion of congenital adrenal hyperplasia (CAH) but were identified via newborn screening in the Wielkopolska region. Diagnostic workup included a Synacthen test showing insufficient cortisol increase and abnormal 17-OHP rise, confirmed by 24-hour urinary steroid profiles and CYP21A2 gene mutation analysis. The authors highlight that newborn screening is crucial for identifying moderate CAH forms where clinical signs like mild virilization may be missed at birth, enabling early treatment to prevent further virilization and precocious puberty. A key limitation noted is that delays in sample delivery via regular mail increased time to diagnosis; they recommend immediate communication of any virilization signs to expedite screening.

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case_report

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pediatrics

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ORIGINAL PAPER

PMC10226346

Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening

Pediatric Endocrinology, Diabetes, and Metabolism

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ABSTRACT

Introduction Congenital adrenal hyperplasia (CAH) before the introducing a newborn screening was initially diagnosed based on clinical symptoms or positive family history and thereafter confirmed hormonal profiles. Patients’ report We present two female newborns with atypical screening results born shortly after the introduction of neonatal screening for congenital adrenal hyperplasia in the Wielkopolska region. Female patients 1 and 2 were both born at term and discharged from neonatal departments without any suspicion of disease. After performing complete neonatal screening for CAH, girls were admitted to the endocrine department for further investigations. In both cases, the girls did not exhibit characteristic symptoms of the disease. Using the Synacthen test, we observed an insufficient increase in cortisol and an abnormal increase in 17-OHP concentrations. The 24-hour urinary steroid profile analyzed by GC-MS confirmed the diagnosis. In both cases, treatment with hydrocortisone and fludrocortisone was initiated. Genetic evaluation confirmed mutations in the CYP21A2 gene. Discussion and Conclusion Newborn screening for CAH is useful for revealing a moderate form of CAH and indicates the need to start treatment in cases without typical signs of disease to prevent further virilization and the generation of a GnRH-independent precocious puberty. For nonobvious screening results, clinical information, including any data on virilization, is extremely helpful. Therefore, a careful assessment of newborns’ genitalia in neonatal departments is important. The screening laboratory should be informed about any abnormalities to perform a complete screening immediately decreasing significantly the time between taking the paper sample and the final diagnosis.

CITATION EXPORT

Magdalena Banaszak-Ziemska, Elżbieta Małecka, Katarzyna Łacna et al.. Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening. Pediatric Endocrinology, Diabetes, and Metabolism. (2021). https://doi.org/10.5114/pedm.2021.109123

AUTHORS

5 · 4 CENTRES

Magdalena Banaszak-Ziemska, Elżbieta Małecka, Katarzyna Łacna, Maria Ginalska-Malinowska, Marek Niedziela

1Karol Jonscher’s Clinical Hospital, Poznan University of Medical Sciences, Poznan, Poland
2Center of Medical Genetics GENESIS, Poznan, Poland
3Screening and Metabolic Diseases Department, Institute of Mother and Child, Warsaw, Poland
4Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan, Poland