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 ...

Insulinoma represents one of the most encountered neuroendocrine tumors, but only 4–14% is malignant. The diagnosis is suggested by high serum insulin levels during spontaneous or induced episodes of hypoglycemia and often invasion of lymph nodes and liver metastasis. A 55–year–old female was referred to our center after an episode of hypoglycemia during strumectomy for multinodular goiter. Further questioning revealed few years of Metformin treatment for hyp...

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...

McCune-Albright Syndrome (MAS) is a rare congenital sporadic disorder due to an embryonic post-zygotic somatic mutation in the GNAS1 gene, defined by the triad of peripheral precocious puberty (PPP), unilateral café-au-lait spots and fibrous dysplasia (FD) of bone. PPP or precocious pseudopuberty is the most common endocrinopathy seen in MAS. Other hyperfunctioning endocrinopathies include hyperthyroidism, acromegaly, FGF23-mediated hypophosphatemia and neonatal hypercort...