Endocrine Abstracts

Introduction: Epidemiological data indicate that children born prematurely have a risk 3–5 fold higher of congenital hypothyroidism (CH). In addition premature infants born small for gestational age (SGA) have a risk of 12% higher to develop IC compared to prematures with appropriate development (AGA). The mechanisms that justify the increased risk of IC are still unknown. Some studies report a pattern of aberrant methylation associated with prematurity, intrauterine feta...

GH has contra-insulin actions and exogenous GH can reversibly reduce insulin sensitivity in patients treated with GH. It has been recently reported that the exon 3 – deleted (d3) isoform of the GH receptor (GHR) appears to be preventive for type 2 diabetes mellitus in adult subjects (GH&IGF Res 2007;17:392). Aim of this study was to investigate possible influences of the GHR-d3 polymorohism on glucose metabolism, lipid profile and BMI in children treated with GH for G...

ACTH resistance syndromes (ARS) are rare, severe and heterogeneous diseases that include either familial glucocorticoid deficiency (FDG) or Allgrove syndrome (AS). FDG is a rare autosomal recessive disorder resulting from mutation in genes encoding either the ACTH-receptor (ACTHR) in FDG1, or its accessory protein MRAP, in FDG2. AS is characterized by adrenal insufficiency due to ACTH resistance, alacrimia, and achalasia secondary to mutations in the AAAS gene, which ...

Premature ovarian failure (POF) is a common cause of female infertility affecting about 1–2% of women under the age of 40. This heterogeneous disorder is characterized by primary or secondary amenorrhea and elevated gonadotropin values. Several defects can cause POF, including autoimmunity, X chromosome abnormalities and gene mutations, but its pathogenesis is still unknown in the vast majority of women with normal karyotype. We recently described two sisters affected wit...

APECED is an autosomal – recessive syndrome defined by two of the following conditions: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) or Addison disease (AD). Other autoimmune endocrine or non-endocrine conditions may be associated, like thyroiditis, celiac disease, alopecia and nail dystrophy. APECED is caused by mutations in the AIRE gene, mapping to 21q22.3. We report here 4 cases with atypical or incomplete presentation, that have been geneti...

Background: Primary Adrenal Insufficiency (PAI) is a rare life-threatening disorder. Data on etiology and outcome of PAI in childhood are scanty, with the exception of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). The aim of our study is to evaluate etiology, morbidity and long-term outcome of PAI in a large cohort of children and characterize clinical presentation in subjects with PAI not due to 21OHD CAH.Material and me...

Mild hypothyroidism is a heterogeneous and frequent disorder in the general population that is due to autoimmune disease in most of the cases. TSH resistance is considered a rare genetic disease due to germline loss-of-function TSHR mutations. However, TSHR mutations have been mainly searched in patients with large TSH elevations and their actual prevalence among patients with mild TSH elevations (as those found in mild hypothyroidism) is so far unknown. In this study, we eval...

Hirsutism is an endocrine condition affecting females with growth of unwanted, male-pattern hair secondary to excess androgen activity. The most common cause of hirsutism in females is PCOS (Polycystic ovarian syndrome). Other causes are fairly rare including adrenal and ovarian androgen producing tumours. In 3% of cases no cause of hirsutism is found and these are termed idiopathic1. We describe a unique case of a 22-year-old presenting w...

Hirsutism is an endocrine condition affecting females with growth of unwanted, male-pattern hair secondary to excess androgen activity. The most common cause of hirsutism in females is PCOS (Polycystic ovarian syndrome). Other causes are fairly rare including adrenal and ovarian androgen producing tumours. In 3% of cases no cause of hirsutism is found and these are termed idiopathic1. We describe a unique case of a 22-year-old presenting w...