Endocrine Abstracts

Human 3β-hydroxysteroid dehydrogenase deficiency is a rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations, leading to steroidogenesis impairment in both adrenals and gonads. The transition period is important for a successful adult fertility, but information about fertility is lacking in this rare disease.The patient presented with salt wasting at birth in Trousseau Hospital. Consanguinity was present, since the parents ...

Introduction: The Carney Complex is a multiple endocrine and non endocrine neoplasia mostly due to PRKAR1A mutations. Spectrum of manifestations and genotype-phenotype correlations have been previously described by retrospective studies. A prospective study evaluating the occurrence of the different manifestations was needed to precise the optimum follow-up.Methods: Multi-center national prospective study (Clinical Trials NCT00668291) including 70 patien...