Endocrine Abstracts

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by the triad of hypoparathyroidism (H), deafness (D) and renal abnormalities (R). Its genetic cause is known to be the haploinsufficiency of the zinc finger transcription factor GATA3. This disorder exhibits a great clinical variability and an age-dependent penetrance of each feature. The most frequent manifestation is sen...

Generalized lipodystrophies are extremely rare diseases. Despite remarkable progress in identifying genes responsible for the most common forms of genetic lipodystrophies, the molecular basis of disease in some patients with distinctive phenotypes remains unclear. We herein describe the case of a male patient born from non-consanguineous parent affected by a syndrome characterized by generalized lipodystrophy, psycho-somatic growth retardation, cleft palate, macroglossia, righ...

The clinical diagnosis of MEN1 is established when a proband manifests at least two of the manifestations of the triad (Primary Hyperparathyroidism (PHPT), Pituitary adenoma, Gastroenteropancreatic Neuroendocrine Tumor (GEP-NET)). Typically, it is a familial disease (F-MEN1), while in about 10% of cases the disease is sporadic. In sporadic forms (S-MEN1), up to 70% of patients may exhibit a negative genetic analysis (MEN1-negative). These patients seem to have distinc...