Endocrine Abstracts

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: 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: Obesity in children is rising worldwide with premature development which could involve greater risk of complications and comorbidities in adult life. Central adiposity is a well known feature of glucocorticoid excess and there are some speculations that cortisol biosynthesis is involved in pathogenesis of metabolic syndrome. However the circadian rhythm of cortisol axis or incrimination of cortisol excess in obese children is less known. Our aim is to investigate...

Carcinoma showing thymus-like differentiation (CASTLE) is a rare malignancy, localized in the thyroid parenchyma. As far as we know, only a few CASTLE cases are described in literature. The diagnosis is based on immunoreactivity, the main characteristic is positivity to CD5, which reveals a thymic differentiation. We report the case of a 63-years-old male, who presented with a 3 cm solid, hypoechoic nodule in the lower part of the left thyroid lobe, with underlying structures ...

Introduction: Papillary thyroid carcinoma (PTC) is a differentiated thyroid carcinoma accounting for approximately 80% of all thyroid malignancies; in contrast only 1–2% of thyroid cancers are anaplastic. While the transformation of papillary thyroid carcinoma to the more aggressive anaplastic carcinoma represents a well known occurrence, the transformation of metastatic PTC in a distant location is an uncommon finding, but new insights from the BRAF(V600E) mutat...

Introduction: 48, XXYY is a rare sex chromosome aneuploidy, being estimated to occur in 1:18000–1:40000 male births. Phenotypically it was considered a variant of Klinefelter syndrome (47,XXY), but currently, due to mental deficiency and behavioural characteristics associated, it’s considered to be a separated genetic condition.Case report: We report a case of a 8-year-old boy, first child of a young non-consanguineous couple, born at term. Due...