Article
Side-chain cleavage enzyme deficiency: Systematic review and case series.
Clinical endocrinology - 1 Mar 2023
Phadte Aditya, Arya Sneha, Sarathi Vijaya, Lila Anurag, Maheshwari Madhur, Memon Saba Samad, Rane Ankita, Patil Virendra, Rai Khushnandan, Raghav Darpan, Kunwar Ambarish, Bandgar Tushar
Abstract excerpt
OBJECTIVE: P450 side-chain cleavage deficiency (SCCD) patients present with primary adrenal insufficiency (PAI) with or without undervirilized external genitalia. The distinction between classic and nonclassic steroidogenic acute regulatory protein deficiency has been described, whereas in SCCD is unclear. The data on gonadal function and its correlation with SCCD genotype has not been studied. We describe our...
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