Endocrine Abstracts

Introduction: Thyrotropinomas are rare pituitary tumours. Neurosurgery is considered the first-line treatment, followed by medical therapy with somatostatin analogues or radiotherapy.Case reports: We present two cases of thyrotropinomas with different therapeutic approaches. Case 1: A 63-year old man presented with severe thyrotoxicosis. Biochemical evaluation showed inappropriate TSH secretion (TSH=7.5 mU/l, FT4=45.5 pmol/l); computed tomogra...

Despite rarer in children than in adults, GH-secreting pituitary adenomas are often more aggressive, being challenging cases during childhood. Somatic changes (tall stature and acromegalic features), optic chiasma syndrome or metabolic and cardiovascular impact of GH excess trigger diagnosis and requires aggressive management. Treatment options are surgery, radiotherapy and medical therapy using somatostatin analogues, dopamine agonists and recently, GH receptor antagonists &#...

Introduction: Progressive osseous heteroplasia (POH) is a rare genetic condition of progressive heterotopic ossification (HO), from skin and subcutaneous tissues into deep skeletal muscles. Most cases are caused by heterozygous inactivating mutations of GNAS gene. Related disorders are Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP), and primary osteoma cutis. Distinction from other GNAS-based conditions is made by the extension of HO from superficial ...

Turner Syndrome (TS) is defined as the combination of characteristic physical features in phenotypic females and complete or partial absence of the second sex chromosome. Short stature is a constant clinical finding in patients with TS. We report the case of a 18 year old female with TS and normal stature. Primary amenorrhea was the reason for the first clinical presentation. Laboratory evaluation showed hypergonadotropic hypogonadism, low oestrogens and testosterone. A pelvic...

Objective: To evaluate whether serum GH and IGF1 levels achieved after 3 months treatment with somatostatin analogues (SSA) are concordant with the efficacy of SSA after longer treatment with the same dose.Patients and methods: From 71 patients with acromegaly treated with SSA in our clinic, in 38 of them (28 women, 10 men, aged 22–62 years) data on serum GH and IGF1 were available at baseline, after 3 months and at the last evaluation on the same S...

Introduction: Zinc homeostasis is involved in numerous physiological and pathological conditions, ranging from type 1 and type 2 diabetes to memory impairment and cancer, and is determined by at least 28 genes, including 24 SLC (Solute Carrier) family members and 4 MTs (Metallothioneins). To explore the potential role of zinc homeostasis in MetS (metabolic syndrome) and IR (insulin resistance), we investigated 28...

Introduction: Zinc homeostasis is involved in numerous physiological and pathological conditions, ranging from type 1 and type 2 diabetes to memory impairment and cancer, and is determined by at least 28 genes, including 24 SLC (Solute Carrier) family members and 4 MTs (Metallothioneins). To explore the potential role of zinc homeostasis in MetS (metabolic syndrome) and IR (insulin resistance), we investigated 28...

Objective: To evaluate the comparative effects of different glucocorticoid treatments on growth and sexual maturation in patients with congenital adrenal hyperplasia.Patients and methods: We conducted a retrospective observational cohort study in 78 patients (60 girls, 18 boys) diagnosed with congenital adrenal hyperplasia (CAH), followed-up for a period of 5 years. The majority had 21-hydroxylase deficiency (75 patients), 2 had 11-β hydroxylase def...

Introduction: 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder and the diagnosis is confirmed by the presence of at least two biallelic pathogenic variants. The phenotype is determined by the less deleterious variant. The relevance of hormonal assessment to distinguish between heterozygote carriers of pathologic mutations and non-carriers or genetically defined 21OHD patients is still a matter of debate. Identifying the heterozygous genotype is important in...