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Found 28 publications

Spontaneous Hypoglycemia: A Diagnostic Challenge.

Establishing a new screening 17 hydroxyprogesterone cut-off value and evaluation of the reliability of the long intramuscular ACTH stimulation test in the diagnosis of nonclassical congenital adrenal hyperplasia.

Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs).

Aldosterone signaling defect in young infants: single-center report and review.

Analysis of the Screening Results for Congenital Adrenal Hyperplasia Involving 7.85 Million Newborns in China: A Systematic Review and Meta-Analysis.

A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia.

Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Multidisciplinary team management of 46,XY 17α-hydroxylase deficiency: a case report and literature review.

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.

Prevalence and Characteristics of Adrenal Tumors and Myelolipomas in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis.

Disorders of sex differentiation: state of the problem 15 years after the Chicago consensus.

Showing 1-12 of 28