Endocrine Abstracts

Introduction: The pseudohypoparathyroidism (PHP) encompasses a heterogeneous group of diseases characterized by end-organ resistance to parathyroid hormone (PTH). PHB type 1b (PHP1b) presents with PTH resistance at the renal proximal tubule, sometimes with TSH resistance, usually in the absence of Albright’s hereditary osteodystrophy (AHO) clinical features.Case report: A 64-year-old male was referred to endocrinology department for hypocalcemia. He...

Objectives: To study the association of serotonin transporter gene (SLC6A4) polymorphism 5HTTVNTR and serotonin receptor 2A polymorphism 5HT2A_T102C with bone mineral density and metabolic parameters of bone remodelling.Materials and methods: BMD (g/cm2) was measured by DEXA in 105 post-menopausal women: 35 with normal BMD (age=58.30±1.33 years; BMI=28.18 [19.13-39.87] kg/m2) and 70 with osteoporosis (age=68.30±1.09 years; BMI=28.90 ...

Objectives: To study the association of Beta-2 adrenergic receptor (ADRB2) gene polymorphism Arg16Gly with bone mineral density and metabolic parameters of bone remodelling.Materials and methods: BMD (g/cm2) was measured by DEXA in 105 post-menopausal women: 35 with normal BMD (age=58.30±1.33 years; BMI=28.18 [19.13-39.87] kg/m2) and 70 with osteoporosis (age=68.30±1.09 years; BMI=28.90 [20.78-43.86] kg/m2). Met...

Introduction: Turner syndrome is one of the most common human chromosomopathy and represents an important cause of short stature and ovarian insufficiency. It is caused by total or partial loss of X-chromosome and its prevalence is about 1 in 2000–2500 live female births.Objectives: To review the patients with TS followed in a Paediatric Endocrinology Unit since 1999.Methods: A retrospective study regarding diagnosis, course, ...

Introduction: Hypopituitarism is a clinical syndrome of deficiency in growth hormone (GHD) production, which can occur isolated or associated with others pituitary defects. GHD has an incidence of 1:4000 to 1:10 000. It may be idiopathic, congenital or acquired.Purpose: Characterize the paediatric population with GHD followed at the Paediatric Endocrinology Unit of our centre and compare the clinical presentation and treatment response of the patients wi...

Introduction: Propylthiouracil is a drug used in the treatment of hyperthyroidism and autoimmunity phenomena have been described as a side effect of its use. Despite anti-neutrophil cytoplasmic antibodies (anca) positivity is frequent in patients treated with propylthiouracil, the occurrence of clinically evident vasculitis is rare.Case report: A 65-year-old woman, diagnosed with hyperthyroidism 2 years ago and treated with propylthiouracil (50+...

Objectives: To study the association of functional polymorphisms at DHFR, CBS and MTHFR genes with bone mineral density (BMD) and metabolic parameters of bone remodeling.Materials and methods: BMD (g/cm2) was measured by DEXA in 391 subjects: 174 with normal BMD (137F 37M; age=48.79±12.99 years; BMI=29.61±5.22 kg/m2), 62 with osteopenia (48F 14M; age=56.06±12.96 years; BMI=27.64±4.94 kg/m2) and 154 with osteoporosis (119F, 35M; age=64...

Introduction: The diagnosis of Cushing’s syndrome is often challenging considering that none of the used laboratory tests has an ideal diagnostic accuracy. The complexity of the diagnosis increases in cyclic disorder, which is characterized by repeated episodes of cortisol excess followed by periods of normal cortisol secretion.Case report: A 32-year-old woman with history of arterial hypertension and obesity presented with weight gain, hirsutism, a...

Aims: To study the association of protein tyrosine phosphatase (LMW–PTP/ACP1) polymorphism with bone mineral density and metabolic parameters of bone remodelling.Methods: BMD (g/cm2) was measured by DEXA in 760 subjects: 448 normal BMD (359F/89M; 49.7±12.9 years; 30.2±5.4 kg/m2) and 312 osteoporosis (265F/47M; 63.9±10.4 years; 27.16±4.4 kg/m2). Metabolic bone remodelling parameters were analyzed: ...

Neuroendocrine neoplasms (NENs) arise from specialized cells called neuroendocrine cells spread through the body, mainly in the gastrointestinal tract, pancreas and lung. Pathological classification of Lung NENs include well differentiated NENs, that can be classified as typical or atypical carcinoids, and poorly differentiated neuroendocrine carcinomas (NECs), classified as small-cell lung carcinoma (SC-NEC) or large-cell neuroendocrine carcinoma (LC-NEC). We present a case o...