Endocrine Abstracts

Background: Combined pituitary hormone deficiency (CPHD) is characterized by multiple pituitary hormone deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. The genetic basis for CPHD is complex, involving a variety of syndromic and non-syndromic presentations with variable degrees of phenotype-genotype correlations. In male infants with CPHD, gonadotropin deficiency is suggested by the presence of a microphallus and undescended ...

Hypocalcemia due to hypoparathyroidism leads to a large spectrum of clinical manifestations but a rare and unusual presentation is onset or aggravation of epilepsy.We report a 77-year-old man who was found to have profound hypocalcaemia and idiopatic hypoparathyroidism when investigated for epileptic seizures. He had affective disturbances and only mild neurocognitive disorders. Cataract was present. The neurological examination showed an extrapyramidal ...