Endocrine Abstracts

Introduction: ACTH resistance syndromes are rare, autosomal and genetically heterogeneous diseases that include familial glucocorticoid deficiency and triple A syndrome. These are characterised by early onset of primary adrenocortical insufficiency associated with hypoglycaemia, convulsions and skin pigmentation.Case report: We present the case of primary adrenal failure in a boy diagnosed at the age of four, during a decompensation episode with hypoglyc...

We present the case of 13 years old boy referred to our service in June 2013 for bilateral gynecomastia (appeared for ~1 year). The boy’s father presented delayed puberty (at 18-year-old). No other pathological hereditary conditions were reported.Clinical examination revealed: gynoid status with height =167 cm (−1.4 DS), weight=63.5 kg, important bilateral gynecomastia with hypo pigmented areola and painful palpation. Sexual development was PI...

Introduction: Bilateral adrenal incidentalomas represent a challenge both in diagnosis and therapeutic approaches. While initial testing is similar to unilateral adrenal incidentalomas, additional investigations should be made considering the differences between the distribution of etiologies.Case report: We report the case of a 67 years old hypertensive female, presenting with backpain; an initial abdominal ultrasound described left adrenal mass and a l...

Introduction: The association between pituitary adenoma and hyperparathyroidism is the main feature of multiple endocrine neoplasia (MEN) 1 but also for a novel MEN4 syndrome. Germline mutations in the cyclin-dependent kinase (CDK) inhibitor 1b gene (CDKN1B) were identified in patients with MEN4. The most common phenotype of the 19 established cases of MEN4 that have been described since now is primary hyperparathyroidism (PHPT) followed by pituitary adenomas. There are a limi...

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: Polycystic ovary syndrome (PCOS) have an increased rate of metabolic syndrome (MS). Many studies have proved that adiponectin is closely associated with MS and participate in the disturbances of gonadal axis. The aim of the study was to evaluate the association of adiponectin levels with MS in PCOS.Patients and methods: Study group included 38 patients with PCOS (Rotterdam criteria) compared to 30 healthy volunteers age and sex matched, all...

Introduction: Wolfram syndrome, a very rare condition, is a neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) which appear in childhood, hampering diagnosis and treatment. Others less frequent features as hypergonadotropic hypogonadism, microvascular disease and local fibromatosis are reported in a male patient diagnosed at the age of 18 years.Case report: An 18-year-old male patient d...

Papillary carcinoma is the most common differentiated malignant thyroid neoplasm. Metastasis commonly occur in regional lymph nodes and distant metastasis ia a late and rare occurrence.Papillary thyroid carcinoma with metastasis to the parietal skull is very rare.We present the case of a parital skull metastasis arising from a papillary carcinoma prior to the diagnosis of thyroid tumor. The patient was a 58 caucasian woman with pre...

The widespread of sensitive imaging methods have substantially increased the incidental finding of subclinical thyroid nodules. The ‘epidemic’ of thyroid incidentaloma has raised numerous discussions regarding their management: Is it necessary to investigate all nodules or is surveillance sufficient? Which criteria should be used in order to identify the nodules which must be investigated by fine-needle aspiration (FNA) (size, echogenicity, vascularisation)? Should w...

Background: Pituitary insufficiency is an uncommon endocrine disorder (incidence 2–4 per 100 000 per year), which clinical symptoms depend on the degree of hormone depletion and the rapidity of onset.Aim: To determine the clinical presentation, aetiology and clinical forms in 150 patients diagnosed with pituitary insufficiency.Material and methods: Retrospective study of clinical records of 150 patients with pituitary insuffic...