hrp0092p2-8 | Adrenals and HPA Axis | ESPE2019

Novel TBX19 Mutation as Cause of Hypoglicemia in Two Siblings

Castagna Andrea , Bottero Arianna , Ruggiero Jessica , Viola Anna , Perrotti Chiara , Oprandi Daniela , Rossi Stefano , Badolato Raffaele , Cutrì Maria Rosa , Mingotti Chiara , Grazzani Livia , Buzi Fabio , Pilotta Alba

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

hrp0086rfc1.6 | Adrenals | ESPE2016

Pediatric Patients with Congenital Adrenal Hyperplasia have Unfavorable Changes in their Cardiovascular Risk Profile

Mooij Christiaan F. , van Herwaarden Antonius E. , Roeleveld Nel , de Korte Chris L. , Kapusta Livia , Claahsen - van der Grinten Hedi L.

Background: Patients with congenital adrenal hyperplasia (CAH) are at risk of developing an unfavorable cardiovascular risk (CVR) profile. Data on the CVR profile in pediatric CAH patients are scarce.Objective and hypotheses: To evaluate the CVR profile of pediatric CAH patients.Method: A cross-sectional study in CAH patients (8–16 years) was performed (n=27). Blood was taken to evaluate several circulating CVR marker...

hrp0086p1-p548 | Perinatal Endocrinology P1 | ESPE2016

Recognition of a Sequence: More Growth before Birth, Longer Telomeres at Birth, More Lean Mass after Birth

de Zegher Francis , Diaz Marta , Lopez-Bermejo Abel , Ibanez Lourdes

Background: Telomere length at birth is a major determinant of telomere length in late adulthood. However, the prenatal setting of telomere length is poorly understood. Individuals born large from non-diabetic mothers are at lower risk for later-life disorders than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and that is already present in infancy.Objective, hypotheses & methods: ...

hrp0086p1-p382 | Gonads & DSD P1 | ESPE2016

Normalization of Ovulation Rate in Adolescent Girls with Hyperinsulinemic Androgen Excess

Ibanez Lourdes , del Rio Luis , Diaz Marta , Sebastiani Giorgia , Lopez-Bermejo Abel , de Zegher Francis

Background: Oligo-ovulatory androgen excess in women (polycystic ovary syndrome (PCOS) by NIH definition) is a major cause of subfertility and relates to hepatic steatosis, independently of obesity.Objective: To test whether early treatment of PCOS affects subsequent ovulation rate.Method: Adolescent girls with hyperinsulinemic androgen excess – a subgroup of PCOS – (mean age 16 year; BMI 23.7 kg/m2) randomly r...

hrp0086p1-p442 | Fat Metabolism and Obesity P1 | ESPE2016

Placental and Cord Blood DNA Methylation Profiling in Small-for-Gestational-Age Newborns from Uncomplicated Pregnancies: Relationship to Prenatal Growth and Postnatal Body Composition

Diaz Marta , Garcia Cristina , Sebastiani Giorgia , Garcia Francesc , Lopez-Bermejo Abel , Ibanez Lourdes

Background: Fetal growth is partly regulated by epigenetic factors, such as DNA methylation. Altered methylation status in placental genes relates to gestational diabetes, preeclampsia and prematurity. However, the epigenetic mechanisms underlying fetal growth restraint in uncomplicated pregnancies remain unknown.Objective and hypotheses: We aimed at identifying new candidate genes related to fetal growth, by assessing DNA methylation profiling in placen...

hrp0084p2-272 | Diabetes | ESPE2015

Circulating GLP-1 in Infants Born Small-for-Gestational-Age: Breast-Feeding Vs Formula-Feeding

Diaz Marta , Bassols Judit , Sebastiani Giorgia , Lopez-Bermejo Abel , Ibanez Lourdes , de Zegher Francis

Background: Prenatal growth restraint associates with risk for later diabetes particularly if such restraint is followed by postnatal formula-feeding (FOF) rather than breast-feeding (BRF). Circulating incretins can influence the neonatal programming of hypothalamic setpoints for appetite and energy expenditure, and are thus candidate mediators of the long-term effects exerted by early nutrition.Objective, hypotheses and method: We have tested this conce...

hrp0084p2-386 | Fat | ESPE2015

The Sequence of Prenatal Growth Restraint and Postnatal Catch-Up Growth Leads to a Thicker Intima Media and More Pre-Peritoneal and Hepatic Fat by Age 3-6 Years

Sebastiani Giorgia , Diaz Marta , Bassols Judit , Lopez-Bermejo Abel , De Zegher Francis , Ibanez Lourdes

Background: Infants born small-for-gestational age (SGA) who develop postnatal weight catch-up are at risk for insulin resistance, central adiposity and cardiovascular disease in later life, even in the absence of overweight.Objective and hypotheses: In young (age 3–6 years) non-obese SGA children, we assessed arterial health by intima-media thickness (IMT) and abdominal fat distribution (subcutaneous, visceral, pre-peritoneal and hepatic components...

hrp0084p2-433 | Gonads | ESPE2015

Oral Contraception Vs Low-Dose Pioglitazone-Spironolactone-Metformin for Adolescent Girls with Hyperinsulinaemic Androgen Excess: On-Treatment Divergences

Ibanez Lourdes , Diaz Marta , Sebastiani Giorgia , Lopez-Bermejo Abel , de Zegher Francis

Background: Hyperinsulinemic androgen excess is the most common cause of hirsutism, acne, seborrhea and menstrual irregularity in adolescent girls. The ovarian androgen excess originates most often from an absolute or relative excess of fat (in adipose tissue and in organs such as the liver) and from the ensuing elevations in insulinaemia and gonadotropin secretion. There is no approved therapy for androgen excess in adolescent girls. The prime recommendation is to reduce body...

hrp0084p3-1253 | Programming & Misc. | ESPE2015

Newborns with Longest Telomeres are Big at Birth and Have Most Lean Mass: Not Most Fat: in Late Infancy

Silva Marta Diaz , Lopez-Bermejo Abel , Toda Lourdes Ibanez , de Zeguer Francis

Background: Telomere length at birth is a major determinant of telomere length at later ages, up into senescence. However, the prenatal setting of telomere length is poorly understood. Individuals born large are at lower risk for later-life disorders, such as diabetes, than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and is already present in infancy.Objective and hypotheses: To asse...

hrp0097p2-215 | Adrenals and HPA Axis | ESPE2023

Pseudocushing. an exceptional patology in pediatrics

Vela Amaya , Grau Gema , Bermejo Marta , Miguel Vazquez , Garrido Marta , Rica Itxaso

Introduction: PseudoCushing is an unusual pathology. Among adults several cases have been published, however, in paediatrics it is unusual.Objective: Description of a PseudoCushing case from a patient admitted in a hospital and results from a study to discard secondary hypercortisolism due to stress.Patients and methods: 13 years old patient that it is admitted in hospital due to v...