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46, XX DSD with Atypical Genitalia: Clinical Insights and Diagnostic Approaches.
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 PDFSevere Hyperandrogenism in 46,XX Congenital Adrenal Hyperplasia: Molecular Physiopathology, Late Diagnoses, and Personalized Management.
Int J Mol Sci
November 2024
Departmental Faculty of Medicine, Unicamillus-Saint Camillus International University of Health Sciences, I-00131 Rome, Italy.
Article Synopsis
- * Clinical manifestations of CAH vary widely, from severe salt-wasting forms risking adrenal crisis to milder forms that show hyperandrogenism without major hormonal deficiencies.
- * CAH in 46,XX fetuses can cause excessive androgen exposure, resulting in virilization and potential complications with gender identity and fertility later in life, raising considerations for gender transition decisions.
Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital.
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.
[Polycystic ovary syndrome: new and promising treatment methods].
Probl Endokrinol (Mosk)
September 2024
Article Synopsis
- - Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder affecting 10-13% of women and can lead to serious health issues like infertility, acne, and metabolic disorders, influenced by genetic and hormonal factors.
- - Lifestyle changes, particularly dietary modifications, are emphasized as critical components of treatment according to Russian health recommendations, with diets like the Mediterranean, DASH, ketogenic, and low-carb being the most effective.
- - Supplementing with vitamins D, E, folic acid, and probiotics, along with new therapies like inositol and GPP-1, shows promise in improving health outcomes for women with PCOS, highlighting the importance of individualized treatment plans beyond just medication.
CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS.
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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