ESPE Abstracts

Background: In children with Prader-Willi Syndrome (PWS) on Growth Hormone treatment (GHT) bone age (BA) acceleration is often observed. Little is known on reasons and consequences.Objective and hypotheses: To quantify BA acceleration in pre-pubertal PWS children on GHT and to investigate how BA correlates with weight gain and age at onset of GHT. To assess how final height depends on pre-pubertal bone maturation, weight gain and age at onset of GHT....

Background: Klinefelter syndrome (KS) is a genetic disorder consisting in a variable number of additional X chromosomes in a male individual. KS patients can rarely develop peripheral precocious puberty (PPP) caused by extragonadal germ cell cancers (eGCCs) producing hormones with androgenic activity. KS patients are at higher risk for eGCC when compared to the healthy populationCase report: We report the case of M., a 8...

Rare endocrine conditions present specific diagnostic and management challenges to healthcare providers, especially regarding transition. Despite the need for practical guidance on this subject, consensus on structured approaches to transition are lacking. The aim was to map the current clinical practice, and identify the unmet needs regarding transition of care for patients with pituitary disease in the reference centers (RCs) of the European Reference Network on Rare Endocri...

Context: Transient thelarche (TT) corresponds to the appearance, regression and subsequent reappearance of the breast bud in girls. Only a single study about its frequency and progression is available (Lindhardt Johansen JCEM 2017).Objective and Hypotheses: To determine whether girls with TT girls (group 1) compared to girls without TT (group 2) show differences in i) timing/sequence of pubertal events ii) pattern of rep...

Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissue- nonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia.The newborn was evaluated for respiratory failure and generalized hypoton...

Introduction: Hyperglycemia is a common event in neonates, frequently associated with specific clinical conditions (sepsis, drugs or intravenous fluids) other than neonatal diabetes. Unusual endocrino-metabolic syndromes must be considered whenever initial studies are inconclusive.Case report: Newborn term female was admitted at the NICU for intrauterine growth restriction with fluxometric changes and low birth weight (1710 g). Gestational history includ...

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with increase androgen levels and PCOS have arisen.Objective: To determine whether PA in children at pubertal onset (TII) determines a different timing of pubertal events and a different pattern of ovarian and adrenal hormones.Methods: A total of 583 girls from the longitudinal cohort (Growth and Obesity Cohort Study, born 2002) wer...

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with an increased metabolic risk have arisen. This risk may depend on ethnic background and infancy weight gain, which could be different by gender.Objective and hypotheses: To determine whether PA in children at pubertal onset (TII) determines a higher metabolic profile.Methods: 1190 children (49.9% female) from the longitudinal co...

Objective: To evaluate the response to recombinant human GH (rhGH) treatment in NS children with short stature and previously identified mutations in the RAS/MAPK pathway genes.Methods: 23 patients with NS (17 males; 19 PTPN11, 3 RAF1 e 1 SHOC2) were daily treated with rhGH (mean rhGH dose of 47 μg/kg per day). The main outcome measures were 1st year growth velocity, change in height SDS (Noonan syndrome specifi...

Background: Children born SGA are at risk of becoming short adults. Although most children born SGA show catch-up growth in the first 24 months of life, approximately 10% remain below the 3rd centile throughout childhood and adolescence. The available evidence shows that GH therapy can increase adult height in short children born SGA although long-term response is variable and closely related to the 1st year response.Aims:</stron...