hrp0095p2-178 | Growth and Syndromes | ESPE2022

A Rare Cause of Proteinuria Presenting with Short Stature, Cataract, and Dysmorphic Findings: Lowe Syndrome with A Novel de Novo Mutation in the OCRL1 Gene

Gürbüz Fatih , Bilginer Gürbüz Berrak , Özalp Yüreğir Özge , Çayır Atilla

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked and multisystem disorder with clinical symptoms of congenital cataracts, severe mental retardation, hypotonia, areflexia, and incomplete Fanconi syndrome of the proximal renal tubules. We report a 15-year-old short stature male with a severe form of OCRL syndrome, diagnosed based on bilateral congenital cataract, proteinuria, tubulopathy, and dysmorphic findings. The physical examination revealed a height of 152 cm (-2.7...

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...

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...

hrp0086p2-p58 | Adrenal P2 | ESPE2016

Isthmic Spondylolisthesis in a Pre-pubertal Boy with Congenital Adrenal Hyperplasia During Aromatase Inhibitor Treatment

Fajardo Nadya Jaimes , Clemente Maria , Fontecha Garcia , Yeste Diego , Campos Ariadna

Background: The aim of therapy in patients with congenital adrenal hyperplasia (CAH) is to use glucocorticoid doses as low as possible to achieve adrenal suppression. Both chronically increased androgen secretion and increased glucocorticoid exposure may adversely affect adult height and in some patients this therapeutic balance is difficult to achieve. In these particular cases aromatase inhibitors (AI) could be indicated with de aim to reduce glucocorticoid doses avoiding th...

hrp0097p1-536 | Multisystem Endocrine Disorders | ESPE2023

Development and implementation of a Pediatric Endocrinology Education Program in Francophone Africa(In French: Programme de formation en Endocrinologie et Diabètologie Pédiatrique pour l’Afrique subsaharienne Francophone [PEDAF])

Niang Babacar , Boiro Djibril , Bretones Patricia , Chetcha Bodieu Adèle , de Beaufort Carine , Ladjouze Asmahane , Léger Juliane , Mbono Betoko Ritha , Vassili Missambou Mandilou Steve , Sap Ngo Um Suzanne , von Oettingen Julia , Chanoine Jean-Pierre

Introduction: Non-communicable diseases are recognized as a major cause of morbidity in low and middle-income countries (LMICs). There are 21 francophone countries (>100 million speak French) in Sub-Saharan Africa (FSSA). We identified only 19 pediatric endocrinologists in FSSA (37% in Cameroon and Senegal) mostly trained in France or through the successful anglophone “Paediatric Endocrine Training Centers for (West) Africa” (PETC[W]A) offered i...

hrp0097p1-493 | GH and IGFs | ESPE2023

Use of aromatase inhibitors in short children and adolescents to optimize final height: A current practice survey

Zepeda Diego , Mericq Veronica

Introduction: Management of pediatric patients with short stature and poor adult height prognosis it’s challenging and effectiveness of treatment with growth-promoting agents is controversial when linear growth is ending. Aromatase inhibitors (AI) have become a therapeutic option as they promote slowdown of bone maturation and increase final height, but yet is a non-approved indication.Aim: To conduct a survey abou...

hrp0095p2-89 | Diabetes and Insulin | ESPE2022

Design, certification and evaluation of an Insulin Infusion Therapy Care and Education Program (PAETII) in children/adolescents in a Pediatric Unit

J. Chueca Maria , Gabari Mercedes , Burillo Elisabeth , Berrade Sara , Herrero Sara , Francisco Laura , Lopez de Dicastillo Ana , Andres Carlos

A structured program of therapeutic education is essential to achieve a good result from the use of technology in the treatment of diabetes.Objectives: Facilitate knowledge, skills and aptitudes to patients and their families in therapy. Promote the capacity for self-management and adherence to treatment. Provide ongoing support to patients. Improve clinical outcomes, health status and quality of life.Metho...