The Journal of clinical endocrinology and metabolism
Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-Hydroxylase Deficiency in 457 Individuals.
Qizong Lao, Annie Schulman, Sarah Kulkarni, Sarah Kollender, Daniella Bick, Amy Moon, Deepika Burkardt, Deborah P Merke
Published: 202510.1210/clinem/dgaf546
Abstract
CONTEXT: Genetic testing for 21-hydroxylase deficiency (21OHD) is advantageous when hormonal testing is equivocal, to molecularly confirm diagnosis, and for genetic counseling. OBJECTIVES: To characterize the clinical and biochemical phenotype across…
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