hrp0092p3-238 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Bilateral Testicular Atrophy and Normal Inhibin B level: A Paradoxal Clinical Finding For A Rare Biochemical Cause !

ESSADDAM Leïla , PIKETTY Marie , KALLALI Wafa , GUEDRI Rahma , GONZALEZ Laura , MATTOUSSI Nadia , POLAK Michel , BEN BECHER Saayda

Background: Testicular atrophy is a rare complication following inguinal hernia repair particularly in children<2 years and those with an undescended testis at highest risk> with an undescended testis. Inhibin B is secreted from the testis as a product of Sertoli cells, and has been suggested as a good marker for spermatogenesis. Its value is expected to be very low in children with bilateral testicular atrophyCase Report...

hrp0089fc6.1 | Fat, Metabolism and obesity | ESPE2018

Correlations Between Measures of Adiposity Across Childhood and Adolescence and the Intestinal Microbiota in 15-17 year-old Children with a Family History of Obesity: Preliminary Findings from the QUALITY Cohort

Henderson Melanie , Van Hulst Andraea , Simoneau Gabrielle , Barnett Tracie A. , Drapeau Vicky , Mathieu Marie-Eve , Nicolau Belinda , Varin Thibaut , Marette Andre

Background: While differences in gut microbiota between obese and lean subjects have been described, few studies have examined how adiposity across childhood relates to intestinal microbiota composition and diversity in late adolescence.Objective: To explore the correlations between measures of adiposity from childhood and adolescence with intestinal microbiota composition and diversity at 15–17 years.Methods: Data stem from t...

hrp0089p2-p099 | Diabetes &amp; Insulin P2 | ESPE2018

Metabolic Improvement Offered by Medtronic Minimed 640 G Associated to Transient Insulin Perfusion Suspension before Hypoglycemia in Young Patients with Type 1 Diabetes

Al Hage Chehade Ghada , Godot Cecile , Jourdon Isabelle , Lepage Nadine , Eve Schmidt Marie , Polak Michel , Beltrand Jacques

Objective: Fear of hypoglycemia interferes frequently with metabolic control of type 1 diabetes especially in patients under 5 years of age who are at high risk of hypoglycemia and low metabolic control. Medtronic Minimed 640 G insulin pump with Smart Guard technology (suspension of insulin perfusion in predictive hypoglycemia situations) appears to be an adequate system for these patients by reducing the risk of hypoglycemia.Research design and methods:...

hrp0089p1-p108 | Fat, Metabolism and Obesity P1 | ESPE2018

More than A Gut Feeling: Preliminary Evidence Supporting a Role for Lifestyle Habits in Shaping the Intestinal Microbiota in Childhood and Adolescence

Henderson Melanie , Hulst Andraea Van , Simoneau Gabrielle , Barnett Tracie A , Drapeau Vicky , Mathieu Marie-Eve , Nicolau Belinda , Varin Thibaut , Marette Andre

Background: Dietary intake has been shown to influence the composition and diversity of the gut microbiota in adults, however its impact in childhood and adolescence remains uncertain. Moreover, the impact of other lifestyle behaviors such as physical activity, sedentary behaviors, sleep and fitness on the gut microbiota has rarely been investigated.Objective: To explore the correlations between intestinal microbiota composition and meas...

hrp0089p3-p142 | Fat, Metabolism and Obesity P3 | ESPE2018

Osse Registry for Patients with Lipodystrophy Run by the European Consortium of Lipodystrophy (ECLip)

von Schnurbein Julia , Schaaf Jannik , Cecarini Giovanni , Vantyghem Marie-Christine , Vatier Camille , Nagel Gabriele , Araujo-Vilar David , Wabitsch Martin

Introduction: The term lipodystrophy describes a rare disease subdivided into a heterogenous group of even rarer subforms. The rarity of this disease makes research in this area extremely difficult and international co-operation is mandatory to accumulate data sets of sufficient size. The European Consortium of Lipodystrophy (ECLip) consisting of an association of European experts in the field of lipodystrophy has therefore decided to set up a registry for patients with lipody...

hrp0089p2-p351 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Two Unrelated Cases of Severe Insulin Resistance Due to Insulin Receptor Mutation Discovered During Adolescence

Maryam Azgal , Natacha Bouhours-Nouet , Odile Camard , Ingrid Allix , Valentine Suteau , Justine Bailleul , Marie-Neige Campas , Regis Coutant

Introduction: Severe insulin resistance due to insulin receptor mutation is usually diagnosed at the neonatal period (Donohue and Rabson-Medenhall syndromes), or later in a type A insulin resistance syndrome. We report here two cases of insulin receptor mutation whose presenting signs were less noticeable.Observation: A 13-year-old girl was referred for short stature (Height −2.5 SDS) with SGA (birth length 44.5 cm, at gestational age 41 weeks). Cl...

hrp0089p2-p363 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

The Human Genital Tubercle is Steroidogenic Organ at Earlypregnancy

Savchuk Iuliia , Morvan Marie-Line , Philippe Antignac Jean , Gemzell-Danielsson Kristina , Le Bizec Bruno , Soder Olle , Svechnikov Konstantin

It is generally accepted that androgens produced by fetal Leydig cells (FLC) control proper masculinization of the male external genitalia. Here, we hypothesized that the human genital tubercle (GT) has potential to synthesize androgens independently of FLC at early pregnancy. We observed that human GT of both genders have capacity to synthesize steroids of the Δ4, Δ5 and alternative pathway of DHT synthesis including the androgen itself. The presence of steroids in ...

hrp0089p2-p390 | Thyroid P2 | ESPE2018

Multinodular Goiter in Childhood: Look for DICER1 Mutation

Suteau Valentine , Isabelle Souto , Natacha Bouhours-Nouet , Maryam Azgal , Justine Bailleul , Marie-Neige Campas , Aurelie Donzeau , Patrice Rodien , Regis Coutant

Introduction: Multinodular goiter (MNG) is a common disorder of the thyroid gland, characterized by thyroid enlargement due to the development of multiple hyperplastic nodules. It is infrequent in children. Here, we present the case of two families with novel DICER1 mutations and familial history of nodules in adolescence.Observations: A 10-year-old female presented a MNG. TSH, Free T3, Free T4 were in the normal range and thyroid autoantibodies were neg...

hrp0086rfc2.8 | Bone &amp; Mineral Metabolism | ESPE2016

Final Heights and BMI in Patients Affected with Different Types of Pseudohypoparathyroidism

Hanna Patrick , Mantovani Giovanna , Grybek Virginie , Juppner Harald , Brehin Anne-Claire , Kottler Marie-Laure , Rothenbuhler Anya , Linglart Agnes

Background: Pseudohypoparathyroidism type 1A (PHP1A) and PseudoPHP are caused respectively by maternal and paternal mutations involving those GNAS exons that encode the alpha-subunit of the stimulatory G protein (Gsα). Common to different forms of PHP1B is a loss-of-methylation (LOM) at one or several maternal GNAS exons, which likely reduces Gsα expression in certain tissues. In most autosomal dominant PHP1B variants (AD-PHP1B), LOM is restricted t...

hrp0086rfc12.5 | Neuroendocrinology | ESPE2016

A Novel MKRN3 Nonsense Mutation Causing Familial Central Precocious Puberty

Christoforidis Athanasios , Skordis Nicos , Fanis Pavlos , Dimitriadou Meropi , Sevastidou Maria , Phelan Marie M. , Neocleous Vassos , Phylactou Leonidas A.

Background: The onset of puberty is influenced by the interplay of stimulating and restraining factors, many of which have a genetic origin. Premature activation of the GnRH secretion in central precocious puberty (CPP) may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.Objective and hypotheses: Explore the genetic cau...