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Article

Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.

Clinical endocrinology - 1 May 2024

Phadte Aditya, Dhole Charushila, Hegishte Samiksha, Sarathi Vijaya, Lila Anurag, Gada Jugal V, Memon Saba Samad, Arya Sneha, Karlekar Manjiri, Patil Virendra, Varthakavi Premlata K, Shah Nalini, Bhagwat Nikhil M, Bandgar Tushar

Abstract excerpt

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...

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PMID: 38368602
DOI: 10.1111/cen.15032

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