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Horm Metab Res
March 2025
Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India.
Congenital adrenal hyperplasia (CAH) is a rare disorder with autosomal recessive inheritance; it was historically known as adrenogenital syndrome. Patients with virilizing forms of CAH and a 46,XX karyotype present with varied degrees of hyperandrogenism due to different genetic defects in the adrenal steroidogenesis pathway. This comprehensive review describes a simplified diagnostic approach for patients with atypical genitalia and 46, XX DSD.
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Departmental Faculty of Medicine, Unicamillus-Saint Camillus International University of Health Sciences, I-00131 Rome, Italy.
J Pediatr Endocrinol Metab
November 2024
Department of Molecular Genetics, Madras Diabetes Research Foundation, ICMR Centre for Advanced Research on Diabetes, Chennai, India.
Objectives: To study the clinical and genotypic spectrum of patients with deletions (MODY 5) at a tertiary care hospital.
Methods: This study included four patients from the Department of Endocrinology at Sher-i-Kashmir Institute of Medical Sciences Srinagar with a strong clinical suspicion of MODY 5. Genetic analysis, including a monogenic gene panel comprising 78 genes associated with MODY and other similar forms of monogenic diabetes, was done.
Probl Endokrinol (Mosk)
September 2024
Biomedicines
July 2024
Genetic Medico-Diagnostic Laboratory "Genica", 1000 Sofia, Bulgaria.
Aims: Pathogenic variants in the gene are related to the classic and non-classic forms of congenital adrenal hyperplasia (CAH). However, the role of CAH carrier status in the clinical presentation of polycystic ovarian syndrome (PCOS) is still unclear. Moreover, the possible associations of different gene polymorphisms with metabolic and reproductive abnormalities in PCOS have not been investigated.
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