ESPE Abstracts

Background: The major genetic causes of CPP are the paternally inherited Makorin RING-finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1) deficiencies. Exceedingly rare patients with CPP carry variants in kisspeptin system. The CPP genes are also associated with the age at menarche in the population as demonstrated by genome-wide association studies (GWAS). Nuclear Receptor Coactivator 5 (NCOA5) is a coregulator for the alpha and beta estrogen receptors a...

Background: Makorin RING finger protein 3 (MKRN3) is an important factor located on chromosome 15 in the imprinting Prader-Willi syndrome - associated region. Imprinted MKRN3 expressed in hypothalamic regions essential for puberty initiation and mutations have been found in patients with central precocious puberty (CPP). CPP caused by the early activation of pulsatile Gonadotropin releasing hormone (GnRH) secretion is clinically defined by the early maturation...

Background: 46,XX DSD (Disorder of Sex Development) includes individuals with ovotestes (ovotesticular DSD (OTDSD)) or testes (testicular DSD (TDSD)). Most individuals with 46,XX TDSD carry the SRY gene. Other known causes of TDSD/OTDSD include chromosomal rearrangements involving SOX9 or SOX3 and mutations of WNT4 and a WNT regulator, R-SPONDIN 1. However, our understanding of the molecular causes of TDSD and OTDSD remain incomplete.<p ...

Background: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis and increasing evidence suggests a genetic origin. Premature activation of the GnRH secretion in 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: To identify loss-of-...

Introduction: The major genetic cause of CPP is the paternally inherited Makorin RING-finger protein 3 (MKRN3) deficiency. Rare patients carry variants in kisspeptin and its receptor and DLK1.Objectives: To identify genetic causes of CPP.Population and methods: MKRN3 Sanger sequencing was performed in 56 unrelated subjects (12 familial non-maternal, 44 sporadic (6 boys)), whole-ge...

Background: Obesity is a disease (2) which is associated with increased morbidity and mortality rate (3) and needs extensive preventive procedures and effective interferences. Children with obese parent are in danger of becoming obese in their adolescence and adulthood even when trying to keep their weight stable.Objective and hypotheses: We aimed to investigate whether parental obesity can trigger obesity in children or not.Method...

Background: Obesity is a disease which is associated with increased morbidity and mortality rate and needs extensive preventive procedures and effective interferences. Children with obese parent are in danger of becoming obese in their adolescence and adulthood even when trying to keep their weight stable.Objective and hypotheses: We aimed to investigate whether parental obesity can trigger obesity in children or not.Method: This i...

Introduction: Short stature is frequently caused by SHOX variants causing functional deficiency. SHOX resides in the pseudoautosomal region (PAR1) of the sex chromosomes and SHOX/enhancer alterations result in a broad phenotypic range: from Langer mesomelic dysplasia, Léri-Weill dyschondrosteosis to idiopathic short stature (ISS). Growth hormone (GH) therapy is indicated for those individuals with short stature due to SHOXdeficiency. A frequent limitati...

Introduction: Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans. About 80% of KS patients have 47,XXY karyotype, while rest of the patients can have mosaicism or other numeric or structural sex chromosome abnormalities. Tall stature is one of the hallmarks of KS and it is thought to be due to supernumerary X chromosome leading to SHOX gene overdosage. Deletion of SHOX gene, on the contrary, has been r...

Background: Patients born small for gestational age (SGA) with additional syndromic features to short stature are likely to present with genetic causes.Aim: To perform a clinical and genetic-molecular investigation of a group of syndromic SGA patients without catch-up growth.Methods: We selected 118 patients born SGA [birth weight and/or length standard deviation score (SDS) ≤−2 for gestational age] without catch-up gro...