Endocrine Abstracts

A 36-year-old Caucasian male was referred in November 2021 to our clinic, for investigations regarding his recent genetic diagnosis of congenital hyperinsulinism, revealed by genetic testing, performed after the birth of couple’s second child presenting with recurrent hypoglycemia.The female newborn diagnosed with fetal macrosomia (birth at 38 weeks, 4.3 kg), required follow-up and further examinations.A massive parallel sequencing on panel of 4867 genes using Roche platf...

Context: The genes implicated in premature ovarian failure play a role in crucial biologic processes such as DNA repair, meiosis, germ cell recruitment, steroidogenesis and mitochondrial function. Mitochondrial disorders are varied in their onset, inheritance pattern, and clinical presentation, but they often cause dysfunction in organs with high energy demands. Frequent features include hypertrophic cardiomyopathy, heart conduction defects, myopathy, sensorineural deafness, c...

Objectives: X-linked hypophosphatemic Rickets (XLHR) is characterized by phosphate wasting and decreased production of 1,25OH-vitamin D, due, in most patients, to elevated FGF23 and PHEX mutation. In children, the disease has been extensively studied because of the devastating presentation of rickets, teeth abcesses, and growth retardation. In adults, however, metabolic complications, such as hyperparathyroidism or consequences on glucose and lipid metabolism of FGF23 excess, ...