Endocrine Abstracts

Acromegaly is a rare disorder usually caused by a benign tumour of the pituitary gland. Long-term presence of elevated growth hormone (GH) and insulin like growth factor I (IGF-I) levels accompanying this disease is associated with complications such as heart failure, cerebrovascular disease, diabetes mellitus, sleep apnoea and arthropathy. Incidence of acromegaly is 3-5 patients per million per year. Klinefelter syndrome is ...

The brain is critically involved in the regulation of energy balance and glucose homeostasis. Depending on the levels of energy available in our body, the activity of a group of hypothalamic neurons expressing the neuropeptidergic marker proopiomelanocortin (POMC) changes and it plays a key role in maintaining energy balance. When POMC neuronal activity is altered, this can lead to impaired energy homeostasis and therefore to obesity. However, POMC neurons are highly diverse, ...

IntroductionPrimary hyperparathyroidism is a common disorder of the parathyroid glands and the third most frequent endocrinopathy, especially among elderly women. Secondary hyperparathyroidism is a common complication of chronic kidney disease, associated with high cardiovascular morbidity and mortality. In both primary and secondary hyperparathyroidism, the need to correctly identify the parathyroid glands is mandatory for a better outcome. Elastography...

IntroductionTurner syndrome(TS) is characterized by complete/partial monosomy or by a structural defect in one of X chromosomes. Despite clinical hallmarks of short stature(SS) and gonadal dysgenesis(GD), phenotype is variable and related to underlying chromosomal pattern. Loss of the distal segment of the short arm of x-chromosome(Xp-), including haploinsufficiency of short stature homeobox-containing (SHOX) gene, is thought to be the main factor for gr...

IntroductionAnti-thyroid drugs (ATDs) are the first line treatment in Europe for hyperthyroidism due to Graves’ disease (GD). Adding levothyroxine to ATDs, so called block and replace therapy (BRT) is still controversial.AimTo follow up the outcomes after treating patients with Graves’ disease in a block and replace regimen.Patients & methodsA prospe...

IntroductionComplete androgen insensibility syndrome (CAIS) is an androgen receptor defect disorder associated with vaginal and uterine agenesis in women with a 46, XY karyotype. The syndrome affects sexual development before birth and during puberty. The major clinical issues surrounding this syndrome include timing of gonadectomy, hormone replacement, vaginal dilation, and attention to psychological issues.Case presentation<p...

IntroductionSilent corticotroph adenoma represent an uncommon subtype of nonfunctioning adenoma, immunoreactive for ACTH, without clinical or biochemical evidence of hypercortisolism and unclear pathogenesis. Usually, they present with local mass effect (visual deterioration being the most common) and endocrine dysfunctions. They carry a more aggressive behavior, particularly upon earlier recurrence.Case presentation<p class="a...

Introduction: Hypokalemic periodic paralysis (HPP) belongs to a group of inherited diseases called channelopathies, whose main manifestation include painless muscle paralysis. There are also acquired forms of HPP secondary to hyperthyroidism, called thyrotoxic periodic paralysis (TPP). It’s prevalence is markedly higher in men.Case Reports: Case 1. 34-year-old Venenzuelan man, without medical history. He consults in the emergency de...

Children born small for gestational age (SGA) not showing catch-up growth in early life may show decreased growth rate and adult height and worse metabolic profile compared to general population. In these patients, growth hormone (GH) treatment showed positive effects on growth rate and metabolic profile, with good tolerability. The aim of the study was to evaluate auxological and metabolic effects and safety of GH treatment in SGA children. Study included 34 SGA children (15 ...

Background and objective: The purpose of this study was to retrospectively analyse the clinical, imaging and hormonal features, as well as the therapeutic outcomes in a series of consecutive patients presenting with pituitary apoplexy (PA).Design: We retrospectively reviewed 71 case-records of patients with PA admitted during 2019 in a single tertiary endocrinology center.Results: ...