hrp0084p3-1143 | Puberty | ESPE2015

Premature Adrenarche is Associated to Precocious Thelarche but not to Precocious Gonadarche or Pubarche in Chilean Adolescents

Pereira Ana , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been associated to increased metabolic risk. Areas of controversy regarding associated co-morbidities are precocious pubarche, PCOS and lower birth weight, which may depend on ethnic background.Objective and hypotheses: To describe the risk of precocious thelarche (PT, <8 years), pubarche (PP, <8 years F, <9 years M) and gonadarche (PG, <9 years) in children with premature adrenarche.<p class=...

hrp0089p1-p020 | Adrenals and HPA Axis P1 | ESPE2018

High DHEAS (HD) in Girls Determines Earlier Pubertal Maturation and Mild Hyperandrogenism throughout Pubertal Development

Pereira Ana , Merino Paulina , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA),characterized by high concentrations of DHEAS,has been considered a benign condition until recently,where associations to increased metabolic risk and PCOS have arisen,which may depend on ethnic background and infancy weight gain.Objective and hypotheses: To determine whether PA in girls determines:i)a different timing of pubertal events, and ii)a different pattern of Ovarian morphology/hormones and adrenal hormones....

hrp0092p1-399 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Pubertal Events, Reproductive and Growth Hormones and Predictive Factors in Healthy Girls with Transient Thelarche.

Soto Julio , Pereira Ana , Busch Alexander , Almstrup Kristian , Corvalan Camila , Juul Anders , Mericq Veronica

Context: Transient thelarche (TT) corresponds to the appearance, regression and subsequent reappearance of the breast bud in girls. Only a single study about its frequency and progression is available (Lindhardt Johansen JCEM 2017).Objective and Hypotheses: To determine whether girls with TT girls (group 1) compared to girls without TT (group 2) show differences in i) timing/sequence of pubertal events ii) pattern of rep...

hrp0086rfc7.8 | Gonads &amp; DSD | ESPE2016

Premature Adrenarche in Girls at Pubertal Onset is Associated with High Androgens, but Lower AMH Concentrations

Merino Paulina M , Pereira Ana , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with increase androgen levels and PCOS have arisen.Objective: To determine whether PA in children at pubertal onset (TII) determines a different timing of pubertal events and a different pattern of ovarian and adrenal hormones.Methods: A total of 583 girls from the longitudinal cohort (Growth and Obesity Cohort Study, born 2002) wer...

hrp0086p2-p181 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Pseudohypoparathyroidism Type IB Associated to Assisted Reproductive Technologies: Case Report

Fernandez Monica , Riquelme Joel , Castiglioni Claudia , Jueppner Harald W , Mericq Veronica

Background: Pseudohypoparathyroidism type Ib (PHP-Ib) is due to a maternal loss of GNAS exon A/B methylation and leads to decreased expression of the stimulatory G protein (Gsα) in specific tissues. Evidence suggests an increased incidence of imprinting disorders in children conceived by Assisted Reproductive Technologies (ART). Nevertheless, no associations between ART and PHP – Ib have been found to date.Clinical case: 7.4-years-old male with...

hrp0086p1-p457 | Fat Metabolism and Obesity P1 | ESPE2016

Premature Adrenarche and Metabolic Risk: Differences by Gender

Pereira Ana , Merino Paulina M. , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with an increased metabolic risk have arisen. This risk may depend on ethnic background and infancy weight gain, which could be different by gender.Objective and hypotheses: To determine whether PA in children at pubertal onset (TII) determines a higher metabolic profile.Methods: 1190 children (49.9% female) from the longitudinal co...

hrp0082p2-d1-449 | Growth | ESPE2014

Fibroblast Growth Factor 21 is Inversely Associated with Growth Rates in Infancy

Mericq Veronica , De Luca Francesco , Hernandez Maria_Isabel , Pena Veronica , Rossel Katherine , Cavada Gabriel , Avila Alejandra , Iniguez German

Background: FGF21 is a metabolic and growth regulator.Aim: To investigate the role of FGF21 during growth in infancy.Methods: Cohort of 40 term (T) and 40 preterm (PT) newborns whose length and weight were evaluated prospectively at birth, 6 months, and 12 months. Blood samples for FGF21, IGF1, leptin, insulin and glucose were collected at 6 and 12 months. In addition, FGF21, I GF-I, leptin, and insulin were measured in cord blood ...

hrp0092p1-228 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Broadening of the Phenotypic Spectrum of Coats Plus Syndrome: A Patient Presenting with Extreme Short Stature as a Hallmark Feature

Riquelme Joel , Mericq Veronica , Pena Fernanda , Boogaard Merel W. , van Dijk Tessa , van Duyvenvoorde Hermine A. , Wit Jan-Maarten , Losekoot Monique

Background and Aims: Coats plus syndrome (MIM # 612199) is a highly pleiotropic disorder particularly affecting brain, eye, bone and gastrointestinal tract. We describe the phenotype of a patient with severe growth failure where whole exome sequencing (WES) revealed compound heterozygosity for two mutations in the CTC1 gene.Patient and Methods: The patient, the fourth child of healthy non-consanguineous parents, was born...

hrp0086fc12.6 | Neuroendocrinology | ESPE2016

Pubertal Onset in Boys is Influenced by BMI and Genetic Variation of Fshb and Fshr: A Study in Two Population-Based Cohorts of Different Genetic Ancestry

Busch Alexander S. , Hagen Casper P. , Main Katharina M. , Almstrup Kristian , Pereira Anita , Corvalan Camila , Mericq Veronica , Juul Anders

Background: Age at onset of puberty exhibits a remarkable variation mirroring nutritional, environmental, socioeconomic and genetic factors. While large genome-wide association studies identified more than hundred genetic loci associated with age at menarche in girls, knowledge on loci associated with age at pubertal onset in boys is sparse. FSHB/FSHR genetic variants have been shown to affect pubertal timing in girls and reproductive parameters in men.<p class="a...

hrp0089p1-p021 | Adrenals and HPA Axis P1 | ESPE2018

Higher Dehydroepiandrosterone Levels in Prepubertal Children Born Very Preterm

Mericq Veronica , Martinez-Aguayo Alejandro , Iniguez German , Poggi Helena , D'Apremont Ivonne , Moore Rosario , Arancibia Monica , Garcia Hernan , Peredo Soledad , Trincado Claudia , Sifaqui Sofia , Ossa Jose Tomas , Fardella Carlos , Carvajal Cristian , Campino Carmen , Baudrand Rene , Solari Sandra , Allende Fidel

Objective: To evaluate the impact of gestational age and birthweight on dehydroepiandrosterone and dehydroepiandrosterone-sulfate (DHEA and DHEA-S) in children born very preterm (VPT) appropriate for gestational age (GA) compared to children born at term (T).Methods: We recorded anthropometric parameters in 72 VPT (<32 GA) and 41 T (≥ 38 GA) aged 5.0–8.5 years. Birthweight standard deviation scores (BW-SDS) were calculated using INTERGROWT...