Endocrine Abstracts

Introduction: Prader–Willi (PWS) is a complex genetic syndrome characterized by dysmorphic features, hypotonia, mental retardation, behavioral abnormalities, hyperphagia with progressive obesity, and endocrine dysfunctions as hypogonadism and GH deficiency. GH treatment is recommended, the major concern being aggravation of sleep apnea.Cases report: We present 2 cases with specific clinical features and genetically confirmed PWS (del 15 q11.2–q...

Introduction: Cushing’s disease is the most frequent cause of hypercortisolism. Although the classical form is easy to diagnose, nonspecific features raise differential diagnosis problems. Severe forms are associated with high mortality, but subclinical hypercortisolism also has significant morbidity.Patients and methods: Retrospective study of Cushing’s disease evolution in 14 patients, diagnosed between 2000 and 2011 (11 women, 3 men, age at ...

Introduction: Pituitary insufficiency of the adult is a rare pathology (~30–40/1 000 000 per year). Among the acquired causes, Sheehan syndrome (SS) is often characterized by an insidious evolution, which allows it to pass unnoticed for a long time.Case report: R Maria, 58 years-old, known with SS for 10 years, was hospitalized in the ER with severe asthenia, obnubilation, symptomatic arterial hypotension. Laboratory studies revealed severe hyponatr...

Introduction: Subacute thyroiditis (SAT) is characterized by cervical pain. Rarely, other thyroid diseases, like Hashimoto’s thyroiditis (HT), may be associated with cervical pain, leading to confusions with SAT. We report a particular case of painful goitre.Case report: D Maria, 50 years old, presented with cervical pain, low grade fever, inflammatory syndrome (ESR=132 mm/1 h), and was diagnosed with SAT. Thyroid function was normal. Ultrasound (US...

Introduction: Lipid storage myopathy (LSM) is characterized by increased lipid droplets in muscle fibers. Primary carnitine deficiency is the most frequent cause of LSM, clinical presentation ranging from asymptomatic to progressive muscle weakness or cardiomyopathy, carnitine supplementation being effective with remission of symptoms.Case report: In february 2007 R.A. born in 1996 presented progressive muscle weakness with elevated muscular enzymes (LDH...

Introduction: The association of type 1 diabetes mellitus (DM1) with thyroid diseases is well known, especially in the field of polyglandular autoimmune diseases. Thyroid status can influence the necessary of insulin – decreased in hypothyroidism and higher in hyperthyroidism. We wanted to evaluate the prevalence of thyroid pathology in patient with DM1.Patients and methods: Cross-sectional study including 66 patients with DM1 (23 men, 43 women) age...