Endocrine Abstracts

Introduction: Follicle-stimulating hormone (FSH) and its corresponding receptor (FSHR) are essential factors for regular gonadal development, sexual maturation at puberty and gamete production during the fertile period in both sexes. The FSHR encoding gene was mapped to the short arm of chromosome (CR) 2 in 2p16.3.3 In females, inactivating mutations result clinically – depending on the degree of inactivation – in primary amenorrhea, sec...

Introduction: Follicle-stimulating hormone (FSH) and its corresponding receptor (FSHR) are essential factors for regular gonadal development, sexual maturation at puberty and gamete production during the fertile period in both sexes. The FSHR encoding gene was mapped to the short arm of chromosome (CR) 2 in 2p16.3.3 In females, inactivating mutations result clinically – depending on the degree of inactivation – in primary amenorrhea, sec...

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 ...

Aim: Procollagen type III N-terminal peptide (P3NP) occurs during type III collagen synthesis. Previous studies about the GH misuse in athletes proved the P3NP as a growth hormone (GH) responsive biomarker. We evaluate the P3NP levels and correlate with IGF1 depending on GH status.Subjects and Methods: We determined P3NP levels in 81 prepubertal children (35 girls) with a mean age of 6.2 y.o [3.37–9.95]. The group consists of 37 subjects with normal...

Evaluation of the thyroid function in pregnant women is of extreme importance for maternal and neonatal health. The reference interval of thyroid function tests in pregnant women differs from that of the general population and among trimesters in the same patient. Trimester-specific thyrotropin (TSH) reference ranges for pregnant women are recommended in order to avoid misclassification of the thyroid dysfunction during pregnancy.Less data about the free...

Aim: Somatic growth results from the generation of new support and connective tissue. Since collagen is the major protein constituent of connective tissue, its synthesis must be a prerequisite for the normal growth. The aim of the study was to determine age-related reference intervals for P3NP, a collagen – formation marker in a group of normal height prepubertal children and to compare to IGF1 levels.Subjects: Forty-three prepubertal children, male...

Neurofibromatosis 1 (NF1) is a rare disease determined by mutations in the RAS-MAPK pathway. It can cause precocious or delayed puberty.Case 1: A 11 years 9 months old girl known with Neurofibromatosis – Noonan Syndrome (NF-NS) was admitted for severe growth deficit (-5.14 SDS). She had over 20 café au lait spots, hypertelorism, pterigium colli, B1 P1. At 18 months she had had surgery for pulmonary stenosis and after that a left ventricular tum...

Craniopharyngiomas are rare solid or mixed solid-cystic tumours. Although benign histologically, these tumours frequently shorten life and should be considered low-grade malignancies.We present the case of a 12-year-old boy diagnosed in 2008, at age 5, with a suprasellar tumour of 22/21/20 mm with mixed solid and cystic areas. The tumour was operated twice by left transfrontal approach in 2008 and right transfrontal approach in 2009. The pathology exam r...

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...

N-terminal peptide of type I procollagen (P1NP) is a marker of GH (hGH) anabolic action on bone formation. We evaluated the diagnostic value of P1NP in GH deficiency (GHD) in the transition period using receiver operating characteristic (ROC) plot analysis. We compared the diagnostic value of P1NP with IGF1. 16 male patients (chronological age, 16.6–21.5) with GH replacement therapy during childhood (ten IGHD and six MPHD) were evaluated at minimum 3 months after completi...