Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, adrenocortical failure and early puberty in both sexes. This article describes the genetics, clinical picture, diagnostics and treatment.
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http://dx.doi.org/10.4045/tidsskr.16.0376 | DOI Listing |
J Transl Med
March 2025
International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, 910 Hengshan Road, Shanghai, 200030, China.
Background: Next-generation sequencing (NGS) has been applied for carrier screening, effectively reducing the incidence of severe diseases. However, some severe, high-prevalent and complex diseases, including spinal muscular atrophy (SMA), α-/β-thalassemia, 21-hydroxylase deficiency (21-OHD), and fragile-X syndrome (FXS), cannot be fully addressed by NGS, resulting in a high residual risk ratio. This study aims to evaluate the clinical utility of a long-read sequencing (LRS) panel for carrier screening of these five complex diseases.
View Article and Find Full Text PDFIntroduction: Children and adolescents with congenital adrenal hyperplasia (CAH) are at increased risk for obesity and exhibit differences in brain regions associated with food reward and decision-making. We aimed to understand differences in dietary decision-making between youth with CAH compared to controls.
Methods: 37 youth with CAH (12.
BMC Endocr Disord
March 2025
Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences, Tehran, Iran.
Background: Heterotaxy syndrome is a rare congenital condition characterized by abnormal arrangement of thoracoabdominal organs, often associated with complex cardiac and splenic anomalies. Pheochromocytoma is a rare neuroendocrine tumor that overproduces catecholamines, leading to various complications. The co-occurrence of heterotaxy syndrome and pheochromocytoma has not been previously reported.
View Article and Find Full Text PDFIntroduction: Non-classic lipoid congenital adrenal hyperplasia (LCAH) presents with adrenal insufficiency but typically lacks a gonadal phenotype or features a delayed-onset gonadal presentation. Information on fertility outcomes in affected individuals is limited.
Case Presentation: We describe an adult male with severe, early-onset primary adrenal insufficiency, yet normal fertility, diagnosed in mid-adulthood with compound heterozygous STAR gene variants, including both known and novel mutations.
Eur J Endocrinol
March 2025
Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
Background: Studies of Primary Adrenal Insufficiency (PAI) in African children are rare but in Sudan, congenital adrenal hyperplasia (CAH) and Triple A syndrome are the most common genetic causes. Differential diagnosis is challenging, especially in resource-limited settings, where presentation can mimic common childhood diseases and facilities for biochemical and genetic testing may be restricted.
Patients & Methods: Forty-eight (48) patients from 43 families (31M:17F) with PAI were included (CAH/Triple A excluded).
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