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...

Introduction: Tumor-induced osteomalacia is a rare paraneoplastic syndrome characterized by the presence of phosphaturic hormone-secreting mesenchymal tumors - fibroblast growth factor 23 (FGF-23), which causes hypophosphatemia and osteomalacia. These tumors are small, frequently infiltrate the surrounding tissues and are located in the connective or bone tissue. Usually, these tumors are benign, but malignant tumors have also been reported.Case report: ...

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...

Background: Triple A (Allgrove) syndrome is a rare genetic disorder with autosomal recessive inheritance, caused by mutations in the AAAS gene on chromosome 12q13. It is characterized by the following triad: ACTH-resistant adrenal insufficiency, alacrimia, and achalasia.Case presentation: We present the case of a 19-year-old male who was diagnosed with adrenal insufficiency at the age of five following an addisonian crisis with hypoglycemic coma. At the ...

Background: Metabolomics profiling of bio-fluids suggests altered signatures in patients with the polycystic ovary syndrome (PCOS).Subjects and methods: A high-performance liquid chromatography/time-of-flight mass spectrometry (HPLC/TOF-MS)-based metabolomics approach was developed to characterize the untargeted lipidomics signature associated with PCOS status in a discovery cohort of 30 plasma samples (15 PCOS, 15 controls, age-matched), followed in a s...

A 69 years old female with cervical radiotherapy 25 years ago for an unknown condition, known with multinodular goitre and hyperthyroidism for 6 years, presented with a 6 months history of enlarged right supraclavicular mass, local pain with difficulty in mobilization of the right arm and weight loss. She also reported progressive bilateral exophtalmia especially on the right side, no dysphagia, hoarseness or dyspnoea. Thyroid hormone levels were normal on antithyroid drugs an...

Introduction: Opioids are commonly used for the treatment of pain, and their effects on the HPA (hypothalamic pituitary adrenal) axis may be under-recognised. In the present, a few non-systematic studies have investigated the effects of opioids on the HPA axis, but results have been conflicting. To our knowledge, there is only another case report of secondary adrenal insufficiency due to tramadol therapy, resulted in suppression on the HPA axis. We present the case of a 79 yea...

Introduction: Neuroendocrine tumors (NET) represent a heterogeneous group of tumors with different locations, whose management is based on the pathology, immunohistochemical, genetic and molecular profile.Materials and method: We followed 8 patients with NET between 2014 and 2022 registered at the “C.I. Parhon” National Institute of Endocrinology, Bucharest, who benefited from peptide receptor radionuclide therapy (PRRT). Among them, 75% were m...

Introduction: The neuroendocrine tumor of the ampulla of Vater represent a very rare disease, corresponding up to 2% of the periampullary malignancies and less than 1% of gastrointestinal NET. Less than 130 patients have been reported until 2013. The biological and clinical behavior is very unpredictable especially if it’s associated with another tumor, like adenocarcinoma. We present a case of a fifty-one-years-old woman who complained of weight loss, jaundice, abdominal...

Pericentromeric inversion of the heterochromatic region of chromosome 9 has been reported in almost 4% of the cases of male infertility.Objective: Determining the karyotype from an infertile couple scheduled to perform IVF.Materials and methods: Slides with metaphasic chromosomes were GTG-banded according to standard protocol for cytogenetic analysis (karyotype). FISH analysis – inverted DAPI (4′-6-diamidino-2-phenylindo...