Endocrine Abstracts

Introduction: Zellweger Spectrum Disorders, one of the two groups of Peroxisome Biogenesis Disorders (PBD-ZSD) are rare, complex autosomal recessive genetic anomalies characterised by mutations in any of the PEX genes which are responsible for defective peroxisomes activity. The peroxisomes are organelles that play a primary role mainly in the lipid metabolism of almost all the cells of the body, hence their defective biosynthesis, assembly or biochemical functions turn PBD-ZS...

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...

Purpose: The purpose is to draw attention to rare cases of Pituitary Macroadenoma co-secreting Growth Hormone and Thyroid Stimulating Hormone with Polynodular Goiter and their importance and approach in current practice.Background: Pituitary adenomas with no hormonal clinical picture are known as ‘silent’ tumors. They are rarely reported and lacking pathogenic explanations.Method: We describe a case of Pituitary Macroaden...

Introduction: The connection between the pharynx and thyroid is close, so in the situations of concomitance: thyroid nodules and pharynx infiltration is very difficult to establish the primary lesion. Extralaryngeal spread of laryngopharyngeal cancer to the thyroid gland can occur by three pathways: direct extension, lymphatic spread or hematogenous spread. Of these three mechanisms, direct extension is the main mechanism because of the close anatomical relationship of the thy...

Introduction: Anaplastic thyroid carcinoma are highly aggressive solid tumors, with a median survival of less than 6 months after diagnosis. They typically occur in patients who are 65 years of age or older. On the other hand, papillary thyroid carcinoma and follicular thyroid carcinoma are generally indolent, with very few progressive cases.Case report: A 64-year-old patient with no significant pathological history, known with goiter for about 40 years ...

Introduction: Short stature is the most common physical abnormality in Turner syndrome (TS), with adult stature averaging 20 cm shorter compared to the general population.Aim: To study the efficiency of early initiation for GH therapy on final stature for patients with Turner syndrome and to prove it’s important role in obtaining optimal growth rates.Methods: We studied a lot of 24 patients with TS diagnosed and followed up in...

Hypokalemic periodic paralysis is an uncommon complication of thyrotoxicosis especially in Caucasian women. It is most frequent in east asian and Japanese males and is characterized by recurrent episodes of motor weekness of variable intensity associated with hyperthyroidism. It is usually associated with low plasma potassium levels and is often precipitated by physical activity. This condition is a self limiting disorder that is cured by the treatment of the underlying hypert...