ESPE Abstracts

Background: Isolated Growth Hormone Deficiency (IGHD) is usually associated with a delayed bone age. A genetic cause for IGHD is more frequently found in patients with familial cases and/or consanguineous parents.Objective and hypotheses: To diagnose the genetic cause of IGHD and clarify the unusual clinical presentation of advanced bone age in one patient born to consanguineous parents.Method: Sanger sequencing of GH1, <e...

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated b...

Objective: To analyze the efficacy of GH treatment in pediatric patients in a hospital from 1982 to 2013.Material and methods: Retrospective study whose population are patients who have been or are being treated with GH in a Tertiary Hospital. The following data were collected: indication of treatment, years of treatment, genetic target height, height at start and the end of treatment, with their corresponding S.D.. A simple linear regress...

Background: Pycnodysostosis is a very rare autosomal recessive skeletal dysplasia caused by cathepsin K deficiency. It is characterized by extreme short stature resulting in an adult height in males typically <150 cm and in females <134 cm. Bone-fragility and frequent fractures are present. There are few case-reports on the effects of GH treatment.Objective: To evaluate the effect and safety of GH in 6 patients wit...

Background: DLK1 (PREF1) is a key inhibitor of adipogenesis and adipocyte differentiation. Adipose tissue expansion depends on adequate adipocyte differentiation. However, whether lower DLK1 expression facilitates adipose tissue expansion following fetal growth restriction is so far unknown.Objective and hypotheses: To study the expression of DLK1 in the adipose tissue of prenatally growth-restricted rats and its relat...

Introduction: Multiple endocrine neoplasia type 1 is an autosomal illness dominant caused by mutations in the gene menina (MEN1) with high penetrance, characterized by neoplasia parathyroid glands, anterior pituitary, endocrine pancreas and duodenum. Although it has been associated with other types of cancer like breast cancer.Methods and materials: Clinical analysis, mutational and sequencing report Sanger from gene MEN...

Steroidogenic factor-1 (SF1), encoded by plays a central role in sex development, steroidogenesis, and reproduction in both males and females. NR5A1 mutations have been described in a diverse spectrum of disorders of sex development (DSD). We report on a case of XY Partial Gonadal Dysgenesis with paternal inheritance of a NR5A1 variant. A 17-year-old girl was referred to us due to primary amenorrhea and absence of secondary female sex characteristics. She was...

Background: Alterations in the timing or expression level of players involved in sex determination and differentiation can cause disorders of sex development, gonadal dysgenesis and germ cell neoplasms later in life. The mitosis–meiosis switch is one of the first manifestations of female sex differentiation and we hypothesise that a conflict between meiosis-inhibiting (male pathway) and meiosis-inducing signals (female pathway) is one of the possible mechanisms for disrup...

Background: OTX2 is expressed in the human brain and plays a key role in the eye development. OTX2 mutations are reported in patients with ano/microphtalmia, optic nerve or optic chiasm hypoplasia, ocular coloboma and retinal dystrophies, associated in some cases with brain or pituitary abnormalities.Objective and hypotheses: Most of OTX2 mutations are nonsense or frameshift, more rarely missense mutations occur.Method: We...

Background: French health authorities have developed a national program to organize outpatient care networks for the prevention and management of obesity in children and adolescents (Réseau de Prise en Charge de l’Obésité Pédiatrique (REPOP)). To date, REPOP Ile-de-France has more than 250 primary care physicians with dietitians, nurses, educators, and psychologists trained in the management of childhood obesity as part of a standard care pathway, work...