ESPE Abstracts

Background: Thickening of the Pituitary Stalk (TPS) and/or Central Diabetes Insipidus (CDI) can occour in isolation or synchronously/metachronously in the same patient. Due to their rarity and wide spectrum of underlying aetiologies they represent a diagnostic and management conundrum.Aim: To develop a high-quality national multidisciplinary guideline for the assessment and management of children and young people (CYP) before their 19th birthd...

Background: Growth monitoring of apparently healthy children aims at early detection of severe underlying conditions. Strong empirical evidence shows that current practices of growth monitoring are suboptimal. Practice standardisation with validated tools requires answering two questions: Which conditions should be targeted? How should abnormal growth be defined?Objective and hypotheses: To obtain consensus on a short list of priority target conditions o...

Background: Partial androgen insensitivity syndromes (PAIS) are rare 46,XY DSD (disorder of sex development).Objective and hypotheses: Three families with PAIS (six patients) are reported, focusing on their phenotype and treatment depending on sex of rearing. Biological investigations and surgical management are described.Method: Between 2009 and 2015 a consultation for uro-genital malformations in pediatric patients was set up in ...

Background: “Transient” Neonatal Diabetes Mellitus (TNDM) is a rare genetic beta cells dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Glucose homeostasis had not been investigated in adulthood.Objective and hypotheses: To investigate insulin secretion and insulin sensitivity in adults affected with TNDM or in their 1st degree mutated relatives.</p...

Background: Pure gonadal dysgenesis 46 XY is a rare form of sexual differentiation disorders.Objective and hypotheses: This study describes the diagnosis circumstances, clinical, biological and radiological presentation, and genetic aetiology of 14 patients with a 46 XY pure gonadal dysgenesis.Method: It is a retrospective descriptive multicenter study from Necker Hospital (Paris) and Lille university hospitals.<p class="abstex...

Purpose: Low areal bone mineral density (aBMD) is a well-known consequence of anorexia nervosa (AN). However, the impact of reduced energy expenditure on bone metabolism is unknown. This study assessed the effects of energy deficiency on bone remodelling and its potential interactions with glucose homeostasis and adipose tissue-derived hormones in AN, a clinical model for reduced energy expenditure.Methods: 50 women with AN and 50 age-matched controls (m...

Objective: Premature GH treatment discontinuation of SGA is usually linked to safety or ineffectiveness. However, this population is poorly addressed compared to those with final adult height (FAH). Authors investigated the journey of SGA prematurely discontinued Norditropin® treatment in a French real-life.Methods: Observational prospective ongoing study: 291 Norditropin®-treated SGA. Annual FU up to FAH. Descriptive anal...

Objective: Age and height at treatment start, target height, GH dose, and first year treatment response are among known criteria of GH deficiency (GHD) good responders (final adult height [FAH] >−2 standard deviation score [S.D.S.]) to GH treatment (GHT). The authors investigated whether the same criteria are applicable to SGA patients based on real-life ongoing French registry data.Methods: 291 SGA children treated with Norditro...

Objective: Bang et al. showed that Δ height and growth velocity (GV) the first year of treatment could be predictive factors of statural response in SGA (n=54). Poor responders showed GV <1SDS (55%) and Δ height <0.5SDS (45%). Moreover, Ortego et al. seems to confirm the suitability interest of KIGS mathematical model in a retrospective SGA cohort (n=103) showing that the percentage of good responders in the first year varies betwee...

Insulin resistance and hepato-visceral (central) fat excess are thought to contribute to an earlier timing of adrenarche/pubarche and puberty/menarche; this earlier timing in turn relates often to a mismatch between pre- and postnatal weight gain, which can be estimated by calculating the Z-score change from birth weight (BW) to body mass index (BMI) in childhood. We tested the hypothesis that this calculation may serve as a proxy of insulin resistance and hepato-visceral adip...