Endocrine Abstracts

Introduction: Several autoimmune determinations have been reported in association with autoimmune thyroidits (AIT). While the classical correlations with other endocrine or general autoimmune diseases like pernicious anemia or vitiligo are frequent and well defined, there are fewer data on other rarer associations, as with celiac disease (CD). In the absence of typical clinical symptoms this association may be overlooked, as in the case we present.Case p...

Pseudohypoparathyroidism (PHP) is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities characterized by parathyroid hormone (PTH) resistance in association with distinctive skeletal and developmental defects.We report a case of a 7 years and 8 months old boy, evaluated at the Endocrinology Department of ‘St Spiridon’ Hospital Iasi in January 2013, who had a history of hypothyroidism diagnosed at the age o...

Introduction: Zellweger Spectrum Disorders, one of the two groups of Peroxisome Biogenesis Disorders (PBD-ZSD) are rare, complex autosomal recessive genetic anomalies characterised by mutations in any of the PEX genes which are responsible for defective peroxisomes activity. The peroxisomes are organelles that play a primary role mainly in the lipid metabolism of almost all the cells of the body, hence their defective biosynthesis, assembly or biochemical functions turn PBD-ZS...

Introduction: Kabuki syndrome (KS) is a rare congenital, multisystemic disorder caused by pathogenic variants of KMT2D or KDM6A genes, causing autosomal dominant KS type 1 (more than 80%) and X-linked KS type 2 respectively. The phenotype spectrum is highly variable, consisting of a mixture of any of the five cardinal features (facial dysmorphic features, skeletal defects, dermatoglyphic abnormalities, various degrees of intellectual and growth retardation) with structural dis...

Introduction: Thyroid nodules are commonly encountered in clinical practice, the main diagnostic problem being the benign or malignant nature of the nodules. Fine-needle aspiration biopsy (FNAB) is a standard diagnostic test for evaluating thyroid nodules. Several studies have showed that the use of ultrasound guidance (US-FNAB) improves the diagnostic accuracy of aspiration biopsies in comparison with palpation guidance (P-FNAB) alone.Patients and metho...

Myasthenia gravis (MG) and autoimmune thyroid diseases (AITD) may coexist and influence one another clinical expression. The opportunity of thymectomy in this association is controversial, since not all the studies have proven its efficacy. We report eight patients (one man and seven women) diagnosed with AITD (Graves’ disease (GD) – five cases, Hashimoto’s thyroiditis (HT) – three cases) and MG. The AITD diagnosis preceded (two cases), followed (three case...

Introduction: The spectrum of GH deficiency (GHD) in children ranges from complete deficiency, with severe growth retardation, to partial deficiency, with slightly short stature. The administration of GH to children with GHD improves linear growth, mainly during the first 2 years of treatment.Patients and methods: The study analyzes pattern of growth in 35 children (24 boys, 11 girls) with GHD, in the first year of treatment with hGH. There were three gr...

Introduction: Myxedema coma (MC) is a rare life-threatening form of hypothyroidism most often seen in patients with incompletely treated or unknown hypothyroidism exposed to stressful conditions (surgery, infections, hypothermia, trauma).Case report: We report the case of a 58-years-old woman hospitalized for coma in a peripheral hospital after a severe respiratory infection. Two days after, patient’s condition was worsening and she was transferred ...

I fine-needle aspiration (FNA) is the gold standard in thyroid nodules management, but it is less common in the evaluation of parathyroid nodules. When imagery fails to localize a parathyroid adenoma, morphological and functional investigations, like FNA of the suspected area and scintigraphy may be useful. We present the case of a 58 years-old woman, menopaused at 47 years, who consulted for lombalgia. Vertebral DXA confirmed osteoporosis (Tscore −3.8). She was not trea...

Primary hyperparathyroidism (PHPT) is a relatively frequent problem in clinical endocrine practice. Minimally invasive parathyroid surgery is the treatment of choice but requires precise preoperatory localization. The most commonly investigation methods are ultrasonography and scintigraphy, but they are not always diagnostic. PTH assay of the aspirate from an ultrasound-guided fine-needle aspiration (USFNA) may confirm the location of pathological parathyroid tissue. The aim o...