Endocrine Abstracts

Objectives: Neurofibromatosis type 1 (NF1) is an autosomal, dominant, genetic disorder. The genetic lesion in neurofibromatosis type 1 is located at locus 17q11.2 that harbors the neurofibromin gene. Patients have 3-4 times higher possibility to develop malignancies relative to the general population. The endocrine manifestations of neurofibromatosis include precocious puberty, short stature, osteoporosis and pheochromocytoma. We present a patient with neurofibromatosis type 1...

Introduction: Postpartum thyroiditis is an autoimmune process that occurs in 5% of the women, precipitated by immunological rebound. The majority off signet-ring cell carcinoma (SRCC) tumors arise from the stomach, colon and breast, malignant transformation of a bronchogenic cysts being exceptionally.Aim: We present a case of a rare mediastinal SRCC of the mediastinum, diagnosed initially with a postpartum thyroiditis.Case presenta...

Background: Almost all patients with Multiple Endocrine Neoplasia, type 2A (MEN 2A) have MTC. C-cell hyperplasia develops early in life and can be viewed as the precursor lesion for MTC. Children with MEN2A who have a total early thyroidectomy have an excellent chance of remaining disease-free.Objectives: To follow-up the children with RET mutation in a family with MEN2A.Methods: We report a family with MEN2A in which the first pat...

Introduction: Subacute thyroiditis is usually a self-limited pathology, possibly of viral aetiology, defined by cervical pain and sometimes systemic symptoms. Its association with autoimmune diseases doesn’t seem to be more frequent than in the general population.Clinical case: Clinical findings of thyrotoxicosis with 3 weeks of evolution associated with anterior cervical pain and fever up to 38 °C. The patient presented with recurrent mouth so...

Background: Haemoglobinopathies are inherited disorders of haemoglobin that predispose to endocrinopathies. The common ones include growth delay, hypogonadism and subsequent osteopaenia. Less commonly seen are diabetes mellitus, thyroid and adrenal disorders. Aetiology is multifactorial and includes tissue hypoxia, chronic anaemia, iron overload, high energy demand, genetic influence and malnourishment. We present three case reports which illustrate the endocrinopathies amongs...