Aditya Phadte, Charushila Dhole, Samiksha Hegishte, Vijaya Sarathi, Anurag Lila, Jugal V Gada, Saba Samad Memon, Sneha Arya, Manjiri Karlekar, Virendra Patil, Premlata K Varthakavi, Nalini Shah, Nikhil M Bhagwat, Tushar Bandgar
OBJECTIVE: Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR. A systematic review of phenotype-genotype correlation and data on testicular histology in LCAH patients is unavailable. We aim to describe our experience and provide phenotype-genotype correlation. DESIGN, PATIENTS AND MEASUREMENTS: Retrospective review of three genetically proven LCAH patients from our centre and per-patient data analysis from a systematic review of 292 probands. The phenotypic subgroups of 46,XY were Group A (typical female genitalia), Group B (atypical genitalia) and Group C (typical male genitalia)...
February 18, 2024: Clinical Endocrinology