Endocrine Abstracts

Introduction: Hirata disease (or Insulin autoimmune syndrome) is characterized by the presence of high concentrations of insulin autoantibodies leading to hyperinsulinemic hypoglycemia in individuals with no history of prior exposure to exogenous insulin. Etiopathogenesis is not completely elucidated, it’s considered to result from the interaction of genetic predisposition and environmental triggers such as: medications (methimazole, carbimazole, alpha-lipoic acid, captop...

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...

Introduction: Premature ovarian failure (POF) may be a part of autoimmune polyglandular syndromes that involves multiple endocrine and systemic conditions due to autoimmunity.Material and methods: We aim to present the case of a young women diagnosed with POF and Schmidt syndrome. The patient was followed in different tertiary centers of endocrinology. The informed consent was obtained.Case report: A 31-year old patient with no pri...

Introduction: Cushing’s disease (CD) in youth represents a challenge especially related to the therapy and long-term management.Materials and methods: We report the medical history of a child with CD who was followed-up for 7 years. Suggestive endocrine panel and imagery is exposed.Case presentation: A 19-year female was diagnosed at age of 12 with CD. Clinical assessment revealed: weight gain, headache, hyperpigmentation pred...

Introduction: Nelson’s syndrome (NS) is an exceptionally rare condition diagnosed sometimes after bilateral suprarenalectomy for Cushing’s disease (CS) involving rapid enlargement of a pre-existing ACTH-secreting pituitary tumor. The clinical picture varies from hyperpigmentation, headache and visual disturbance to diabetes insipidus and hypopituitarism if the hypothalamic-pituitary portal system is disrupted or normal pituitary tissue is destroyed by the adenoma. Th...

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 ...

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...

Introduction: Pituitary gigantism is a rare disorder characterized by growth hormone (GH) excess that occurs before epiphyseal growth plates fusion leading to rapid and excessive linear growth in childhood and very tall adult stature. It can be sporadic or coexist with genetic disorders such as FIPA, X-LAG, McCune-Albright, Carney complex, MEN 1 or 4, and Neurofibromatosis type 1.Case report: We present a case of a 12 years old boy with no medical histor...

Metyrapone treatment in endogenous Cushing’s syndrome. Results from a prospective multicenter, open-label, phase III/IV study: PROMPTBackground: Metyrapone is a steroidogenesis inhibitor approved in Europe for the treatment of endogenous Cushing’s syndrome (CS) based on observational retrospective studies published over more than 50 years. We present data from the first prospective study designed to confirm metyrapone efficacy and good tolera...