ESPE Abstracts

The transition phase is the period from the end of puberty until achievement of full adult maturity. We report the results from 45 patients with pituitary deficiency (15-24.9years), 28 (16males) with congenital insufficiency (G1) and 17 (10males) with acquired disease (G2), evaluated at the end of GH therapy. All cases had confirmed GH deficiency; 89.2 % of cases from G1 had multiple pituitary deficiencies (TSH 23/28, LH/FSH 19/28, ACTH 15/28 and Prolactin 3/28), 94.1 &#37...

Introduction: Hyperandrogenism is a common presenting complaint during the transition period; however, clinical, hormonal and metabolic parameters in these patients have not been yet adequately characterized.Objective: To evaluate the disease-related history, clinical presentation and biochemical parameters in patients diagnosed during this period with nonclassic congenital adrenal hyperplasia (NCCAH) due to 21α hydroxylase deficiency and patients w...

Background: The management of subclinical hypothyroidism (SH) is still challenging in particular for mild forms with TSH levels ranging between 4.5 and 10 mU/L.Objective and hypotheses: to compare left ventricular (LV) geometry and function of SH subjects and matched euthyroid controls, and to evaluate the effect of L-thyroxine (L-T4) therapy on cardiac parameters.Method: Thirty-six (36) children (19 females and 17 males), aged 8.6...

Background: The glucose metabolism derangements (GMD) can have an important impact on nutritional status and respiratory function in patients with cystic fibrosis (CF).Objective and hypotheses: The aim of our study is to evaluate the effects of 4 years of glargine therapy in patients affected by CF and GMD.Method: All CF patients attended to the Center of Cystic Fibrosis of our department were screened by oral glucose tolerance tes...

Background: Adolescence is a critical period of life, and even more if a chronic illness is present like type 1 diabetes mellitus (T1DM). The healthy lifestyle practice is one of the pillars of the T1DM treatment.Objective and hypotheses: To evaluate the association between lifestyle and health related quality of life (HRQoL) in adolescents with T1DM.Method: Lifestyle and HRQoL were evaluated in 69 T1DM adolescents (34 male, mean a...

Background: Lipoprotein lipase (LPL) deficiency is an autosomal recessive disease with deficient extrahepatic removal of blood lipoproteins.Objective and hypotheses: Primary LPL deficiency can be exacerbated by coexistent conditions such as diabetes, where relative or absolute insulin deficiency leads to an additional secondary LPL deficiency.Method: We describe two cases in which primary LPL deficiency overlapped with previously d...

Background: Previous studies evaluating bone quality and microarchitecture in X-linked hypophosphatemic rickets (XLH) have produced conflicting data.Objective and hypotheses: To evaluate the bone mineral density (BMD) and microarchitecture in 36 XLH patients (13 children and 23 adults) with confirmed PHEX mutations compared to healthy controls.Method: The areal BMD (aBMD) at lumbar spine (L1-L4), femoral neck, total hip an...

Background: Loss-of-function of immunoglobulin superfamily, member 1 (IGSF1) causes an x-linked syndrome of central hypothyroidism, macroorchidism, delayed pubertal testosterone rise, variable prolactin deficiency, and variable partial growth hormone deficiency in childhood. The clinical features and gene expression pattern suggest a pivotal role for IGSF1 in the pituitary, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.<p class=...

Introduction: X-linked hypophosphatemic rickets (XLH) is characterized by a mineralization disorder in the growth plate and cortical and trabecular bones, resulting in bone deformities with anthropometric changes and potential alterations in body composition.Objective: To evaluate the body composition of 12 children and adolescents with XLH compared to healthy controls by anthropometric and densitometry data.<p class...

Introduction: Bardet-Biedl syndrome is a rare autosomal recessive disease, characterized by rod-cone dystrophy, truncal obesity, left foot polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, female genitourinary malformations, and renal abnormalities. The authors present 3 cases of Bardet-Biedl syndrome diagnosed during pediatric age.Case description: Case1: A 3-year-old girl with a f...