Endocrine Abstracts

HDR syndrome (hypoparathyroidism, deafness, renal dysplasia syndrome) is a rare clinical entity, which includes the simultaneous presence of hypoparathyroidism, sensorineural deafness and renal dysplasia. It is due to mutations of GATA3 gene in XP.10p and is inherited with the autosomal dominant type.The aim was to describe the case of a patient with clinical symptoms and laboratory and imaging findings compatible with HDR or Barakat syndrome.<p clas...

Adrenal rests, nodules of the adrenal, in patients with chronic elevation of ACTH levels have been previously described.The aim was to describe the case of a patient with an adrenal tumor and late onset 21-hydroxylase deficiency.A female patient, aged 76 years, presented with an incidentally discovered mass of the left adrenal measuring 1.2 cm. The patient was short with a height of 152 cm. Morning serum ACTH levels were 31 pg/ml, ...