Endocrine Abstracts

Background: Resistance to thyroid hormone beta (RTHβ) is an inherited syndrome of reduced tissue responsiveness to thyroid hormones (THs). It is driven in 85% of cases by mutations in the thyroid hormone receptor beta (THRb). The estimated incidence is 1:40.000 to 1:19.000 live births. We report the clinical, laboratory, and genetic analysis of a patient with this disorder.Case report: A 12-year-old boy with a history of Attention-Deficit/H...

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 ...

Introduction: Combined pituitary hormone deficiency (CPHD) is characterized by impaired production of pituitary hormones. A possible cause are PROP-1 mutations (prophet of Pit-1 protein). It plays an essential role in the evolution of pituitary cells secreting GH, TSH, LH, FSH, prolactin; some patients may develop late ACTH deficiency. PROP 1 gene mutation is manifested with variable degrees of phenotype-genotype correlation, with growth failure as the first sign detected in e...