Endocrine Abstracts

Introduction: Gitelman syndrome(GS) is a salt-wasting tubulopathy characterized by renal potassium wasting, hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and hyperreninemic hyperaldosteronism. It is caused by the mutation of genes encoding sodium chloride (NCCT) and magnesium transporters in the thiazide-sensitive segments of the distal nephron (SLC12A3 and TRMP6 gene). GS is a rare autosomal recessive disease with a prevalence of only 25 cases per one millio...

We are presenting a 23-year-old girl with a medical history of juvenile rheumatoid polyarthritis treated with methotrexate, that first addressed to the Endocrinology Department in may 2022 for primary amenorrhoea with poorly developed secondary sexual characters: height 160 cm, weight 48 kg, BMI 18.35 kg/m2, Tanner stages P1, B3. She was treated with oral contraceptives by the gynaecologist in the past without a hormonal assessment. The lab work revealed hypogonadotropic hypog...

With congenital hypopituitarism, the clinical manifestations of pituitary hormone deficiencies usually appear during infancy or early childhood. Typically, one or more anterior pituitary hormones are deficient, and the most severe manifestations include neonatal hypoglycemia, electrolyte imbalances and failure to thrive. We present the case of a 43 year old male, with cardiovascular and metabolic comorbidities (arterial hypertension, type 2 diabetes mellitus), with no prior ho...

Pineal germinomas account for the majority of intracranial germ cell tumors. Surgery and radiation are usual management options, and secondary hypopituitarism can ensue after both. Diabetes insipidus is particularly common after surgical removal of pineal tumors, but improvement in polyuria and polydipsia years after surgery is exceedingly rare. Here, we present the case of a 49-year-old male, who was diagnosed with a pineal germinoma at the age of 20, which was surgically rem...

Breast cancer (BC) is the most common type of cancer and the leading cause of cancer-related death in women worldwide. A considerable number of these long-term survivors may therefore have an elevated risk of developing a second primary malignancy (SPM). Thyroid cancer (TC) is the most prevalent endocrine malignancy among women. Epidemiologic studies have indicated that patients with BC have a higher risk of developing TC as an SPM, and vice versa, than would be expected in th...

Introduction: Oestrogen receptors (ER) are essential for reproductive function and fertility. ER46 is a 46 kDa truncated isoform of full length ERα (ER66) that binds oestradiol (E2) and can signal via nuclear or membrane-initiated signalling pathways. ER46 has been detected in breast cancer cell lines but expression in endometrial tissues has not been documented. The aims of this study were a) to determine whether endometrial cells express ER46, and b) to investigate a po...

Background: Adrenocortical carcinoma (ACC) has an aggressive but variable behaviour. ENSAT tumour stage and Ki67 proliferation index are used to predict clinical outcome but they are limited in distinguishing patients with best outcome. We aimed to investigate the prognostic role of clinical/histopathological parameters alone or in combination according to previously proposed points-based score (mGRAS, Lippert JCEM 2018).Methods: We assessed 112 patients...

Background: Growth hormone (GH) deficiency(GHD) in childhood is associated with impairment in linear growth. GH therapy enables the achievement of normal adult height in most cases. The response is variable and factors influencing height outcome are still not clearly defined.Objective: To evaluate near adult height (NAH) in a single center cohort of childhood onset GHD patients treated with GH and investigate main predictors of final height (FH).<p c...

Background: Cystic fibrosis (CF), a monogenic disease from mutations in the CFTR gene on chromosome 7, causes pancreatic insufficiency and impaired nutrients absorption. Unlike other malabsorption disorders, no data are available in literature on L-T4 absorption in CF. This study analyzed L-T4 absorption and requirement in hypothyroid CF patients.Methods: Ten CF patients (7 F, 3 M; mean age 37 yr), with autoimmune (n=6) or post-thyroidectomy (<e...

Epidemiological studies have shown that caffeine increases plasma SHBG levels and also reduce the risk of type 2 diabetes. There are no reports describing any molecular mechanism by which caffeine regulates hepatic SHBG production. The aim of the present study was to explore whether caffeine regulates SHBG production and to determine the associated molecular mechanisms. For this purpose, in vitro and in vivo studies were performed using human HepG2 cells and ...