Endocrine Abstracts

Heterozygous mutations in the transcription factor, hepatocyte nuclear factor 1b (HNF1B), result in multisystem disease including diabetes due to beta-cell dysfunction and pancreatic hypoplasia. However, the mechanisms that underlie development of diabetes in HNF1B mutation carriers are still not fully understood due to lack of an appropriate animal model system. Human pluripotent stem cells (PSCs), which are capable of self-renewal and can differentiate into any cell type, ar...

Medullary thyroid carcinoma (MTC) is a rare but relatively serious disease, whose prognosis depends on the stage of the tumor and the quality of the initial surgical treatment. The determination of the plasma calcitonin; cervical ultrasound, and fine needle aspiration biopsy are first line examinations; nevertheless they do not always make it possible to make a certain diagnosis in preoperative; moreover they do not define the MTC nodule in a multi nodular goiter and the metas...

Background: Severe hyponatremia can be associated with oxytocin infusion. The incidence of hyponatraemia after oxytocin is around 5%. There are reported cases of serious neurological complications including seizures, coma and maternal death.Case report: A 37-year-old female with known partial central diabetes insipidus following a head injury was established on Desmopressin nasal spray 10 mg twice a day. She had an uneventful pregnancy on the same dose. ...

Introduction: Primary thyroid non-Hodgkin’s lymphoma (PT-NHL), is a quite rare entity, accounting for 1.3–1.5% of thyroid neoplasm, and 0.5% of lymphoma. The extranodal marginal zone B-cell lymphoma of MALT, occurs in 23% of PTL. The aim of our work is to evaluate the clinicopathological features and treatment outcomes of patients with MALT primary thyroid lymphoma. We report two cases of MALT PTL taken care of in our department.Observation 1: ...

Introduction: Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a genetic condition affecting males, and it often isn’t diagnosed until adulthood. It is manifested by gynecomastia, small testicles, erectile dysfunction, infirtility …Observation: 70-year-old male patient with motor and cerebral infirmity, several fractures following minimal trauma. Hospita...

Case history: A 75-year-old lady presented with sudden central chest discomfort to Emergency Department. The chest pain was preceded by palpitations. She had a background of Hypertension. She was non-smoker and otherwise fit and well. She mentioned receiving a steroid injection one day ago for joint pain. Her B.P on presentation was 226/106. Her physical examination was otherwise normal.Investigations: Her ECG on admission revealed atrial tachycardia and...

Purpose: Coronary artery disease (CAD) is more common and severe in diabetic patients. The aim of this study is to assess the frequency of silent myocardial ischemia in asymptomatic diabetitics by myocardial perfusion scintigraphy and to correlate the results with risk fators.Methods: We prospectively studied 50 (25 men and 25 women) diabetic patients asymptomatic and without known history of CAD. The minimum duration of diabetes was 15 years for the typ...

Introduction: Growth hormone deficiency is a rare cause of stunting; its diagnosis is often delayed by severe growth retardation; confirmed by non-response to GH stimulation tests (insulin and glucagon-propranolol test). The absence of early diagnosis and treatment can lead to severe growth retardation. We propose to determine the prevalence of different etiologies of growth hormone deficiency in patients followed for a saturo-weight delay at the Arrazi Hospital, Medical Unive...

Introduction: The contribution of chronic hepatitis C virus (HCV) infection per se in thyroid autoimmunity and dysfunction remains controversial.Aim: To investigate the prevalence of thyroid disorders and the possible association between thyroid dysfunction and different factors in a cohort of HCV untreated patients.Material and methods: A total 1050 patients with untreated HCV infection were enrolled in this study. Thyroid functio...

Introduction: Fahr’s syndrome and primary hypoparathyroidism are two rare diseases. Fahr’s syndrome is characterized by abnormal calcified deposits in basal ganglia and cerebral cortex and by the classic association with hypoparathyroidism. We report two cases of Fahr syndrome revealing an unknown primary hypoparathyroidism.Observation 1: A 36 year-old man, with a history of schizophrenia and generalized tonic-clonic seizures since two years. H...