ESPE Abstracts

Background: To date at least 30 genes are known to be associated with idiopathic hypogonadotropic hypogonadism (IHH). Analysis of all these gene candidates by Sanger sequencing would be expensive, labour-intensive and time-consuming. Recent introduction of next-generation sequencing (NGS) enables simultaneous analysis of multiple gene targets making it an attractive approach in such conditions as IHHObjective and hypotheses: To study the spectrum of mole...

Obesity is increasing, and the related complications are well known. Clinical Trials related with specific diets are currently lacking in paediatrics. There is an increasing interest in Mediterranean diet (MD). The Med4Youth European study* has enrolled 240, 13- to 16-year-old subjects with a BMI above the 90th percentile(WHO curves) in a multicenter randomized controlled trial (Italy, Spain and Portugal) to evaluate the effects of MD. We present the data relative to the 80 su...

Background: patients with childhood-onset craniopharyngioma (CO-CP) present long-term outcomes, including growth hormone (GH) deficiency and obesity. Currently, data on the effects of GH therapy (GHT) on the body mass index (BMI) in CP are inconclusive. Aims of the study were to evaluate BMI over time and its determinants in a large cohort of CO-CP patients treated with GH therapy (GHT).Methods: a multicenter retrospecti...

XLH is the commonest inherited form of rickets. Impaired regulation of fibroblast growth factor 23 (FGF23) due to PHEX gene mutation leads to reduced tubular reabsorption of phosphate (TmP/GFR) and 1,25-dihydroxyvitamin D (1,25(OH)2D) synthesis with hypophosphatemia. Patients show rickets and osteomalacia, bone and muscular pain, stunted growth, and reduced quality of life. We report preliminary data on burosumab therapy in a selected sample of Italian patients.<p class="a...

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...

Introduction: The selection of the insulin catheter length for pump T1D users is based mainly on age and though different sites for insertion have been suggested, it is not clear what the ideal site is according to each person’s body type and subcutaneous fat.Aid: Aid of the study is to identify the proper sites for insulin catheter insertion according to subcutaneous fat and anthropometric characteristics.Methods: Study group...

Objective: Early genital surgery has been the routine practice in virilized girls with severe forms of CAH for many years. During the last decade studies have shown genital surgery to have unsatisfactory effects on genital sensation and sexuality, and the current practice with early surgery has been questioned by patients and support groups as well as by clinicians and researchers. As surgery has been postponed in only few girls, published data on the effect of hydrocortisone ...

Background: Klinefelter syndrome (KS) is the most common cause for hypergonadotropic hypogonadism. Patients with 47,XXY karyotype often have increased gonadotropin levels at early puberty, which stay high during adolescent and adult life due to hyalinisation of seminiferous tubules of testes. We report a clinical case of 47, XXY KS patient with low gonadotropin levels.Clinical case: A boy was referred to an endocrinologist at the age of 12,5 years due to...

We demonstrate significant penile growth in an infant with 17 beta HSD-deficiency treated with DHT-gel.Background: The child was born with ambiguous genitalia at full term. Investigations revealed 46,XY karyotype, testosterone and DHT levels were 2.5 nmol/L and <0.1 nmol/L respectively. No female internal genitalia were found. hCG stimulation did not result in an increase in testosterone, but a clinically obvious increase in phallus size. Subsequent ...

Background: Few data exist for young children regarding the proper site for insulin catheter insertion for pump (CSII) users.Objective and hypotheses: To evaluate the proper site for catheter insertion in very young children (<8 year old) with T1D and CSII.Method: The study comprised 10 children [7 females, median age 4.43 years (range 2.3–7.18), median disease duration 1.65 years] with T1D who were on CSII. Ultrasound mea...