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...

Introduction: Autosomal Dominant Hypocalcemia (ADH) presents with low calcium and high phosphorus levels due to hypoparathyroidism. It is categorized into type 1, resulting from gain-of-function mutations in the calcium-sensing receptor (CASR), and type 2, caused by activating mutations in GNA11, a key mediator in CASR signaling. Our contribution involves reporting a rare case of pediatric ADH 2.Case presentation: We present the case of a 9-year-old boy ...

Recurrent hypercalcemia after successful parathyroidectomy has been reported to be higher than previously thought. Most cases are transient and often associated with other factors, with only a minority requiring treatment. Multidisciplinary diagnosis is necessary to prevent persistence and recurrence. A 55-year-old female patient with a history of surgical removal of a right parathyroid adenoma four years prior, lost from follow-up, was referred to our clinic for persistent as...

Introduction: Multiple endocrine neoplasia type 2A is an autosomal dominant disorder, caused by mutations in the RET proto-oncogene. The genetic testing may help us in the early identification of carriers, and it can guide us on the follow-up and on the treatment. Thus, we can significantly reduce the morbidity and mortality of this syndrome. We will illustrate a case and highlight the importance of follow-up in a MEN2A patient.Case report: A 41-year-old...