hrp0084fc10.2 | Perinatal Endocrinology | ESPE2015

The Altered Circulating miRNA Profile in Maternal Obesity Associate with Pre- and Post-Natal Growth

Bassols Judit , Carreras-Badosa Gemma , Bonmati Alexandra , Ortega Francisco-Jose , Mercader Josep-Maria , Prats-Puig Anna , Sanchez Josefa , deZegher Francis , Ibanez Lourdes , Fernandez-Real Jose-Manuel , Lopez-Bermejo Abel

Background: Gestational obesity has not only adverse effects on the mothersÂ’ health but also on the developing fetus. Newborns of obese pregnant women have increased birth weight and increased risk for obesity and associated diseases in adulthood. The mechanisms by which maternal nutrition induce these changes in the offspring may involve microRNAs (miRNAs) regulation.Aims and objectives: To study the associations between circulating miRNAs altered ...

hrp0084fc10.3 | Perinatal Endocrinology | ESPE2015

Circulating miRNA Expression Profile in Pregestational and Gestational Obesity

Bassols Judit , Carreras-Badosa Gemma , Bonmati Alexandra , Ortega Francisco-Jose , Mercader Josep-Maria , Prats-Puig Anna , Sacot Neus , deZegher Francis , Ibanez Lourdes , Fernandez-Real Jose-Manuel , Lopez-Bermejo Abel

Background: miRNAs are valuable circulating biomarkers and therapeutic targets for metabolic diseases. A differential pattern of miRNAs has been described in pregnant women with preeclampsia or gestational diabetes; however, it is unknown whether maternal obesity affects the profile of circulating miRNAs.Aims and objectives: To define the circulating pattern of miRNAs in pregestational and gestational obesity; and to explore their associations with mater...

hrp0097rfc4.4 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Genetic findings in short Turkish children born to consanguineous parents

Joustra Sjoerd , Isik Emregul , M. Wit Jan , Catli Gonul , Anik Ahmet , Haliloglu Belma , Kandemir Nurgun , Ozsu Elif , Hendriks Yvonne , de Bruin Christiaan , Kant Sarina , Campos-Barros Angel , Challis Rachel , Parry David , Harley Margaret , Jackson Andrew , Losekoot Monique , van Duyvenvoorde Hermine

Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...

hrp0084wg3.5 | DSD | ESPE2015

EU-Study: DSD-LIFE

Kohler Birgit , Arlt Wiebke , Bouvattier Claire , de la Perriere Aude Brac , Gaye Claire-Lise , Claahsen-van der Grinten Hedi , Cohen-Kettenis Peggy , Nordenstrom Anna , Pienkowski Catherine , Richter-Unruh Annette , Slowikowska-Hilczer Jolanta , Paris Francoise , Szarras-Capnik Maria , Reisch Nicole , Thyen Ute , Wiesemann Claudia

DSD-LIFE is a comprehensive clinical outcome study investigating medical, surgical, psychosocial, and ethical issues to improve treatment and care of patients with the different diagnoses included in the umbrella term disorders/differences of sex development (DSD). The multidisciplinary DSD-LIFE consortium consists of 15 experienced European scientists in the areas endocrinology, psychology, surgery, gynaecology, urology, and ethics. In 2013 the study protocol and the online d...

hrp0095wg4.1 | ESPE Working Group on Diabetes Technology (DT) Symposium | ESPE2022

Use of Automated Insulin Delivery systems (AIDs) in preschool children

de Beaufort Carine

Management of type 1 diabetes in preschool children is a huge challenge for their caregivers. Age-specific factors (e.g. unpredictable food intake and physical activity, small insulin doses, high insulin sensitivity, frequent intercurrent infections, high variability in insulin requirements) increase the complexity of daily diabetes management. Furthermore, the preschool child depends completely on his/her caregiver. To meet recommended treatment targets while avoiding hypogly...

hrp0092s6.2 | Endocrinology Meets Diversity: Transgender Youth | ESPE2019

Psychiatric Comorbidities in Transgender Youth

de Vries Annelou

I review the mental health difficulties that transgender and gender diverse children and adolescents may present with, specifically emotional difficulties. Many studies reveal depression scores and parent and self-reported measures of emotional and behavioral problems that are comparable to mental health clinic referred populations. Children and adolescents who feel that they are acknowledged and supported in their gender diverse feelings, e.g. by receiving gender affirming me...

hrp0089wg1.3 | ESPE Disorders of Sex Development & Turner Syndrome Joint Session | ESPE2018

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism

De Groote Katya

The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Cardinal features of TS include reduced final height and infertility. Apart from endocrine, renal and neurocognitive disorders, structural heart defects are frequently present (in 25% to 50%), also in TS patients with mosaicism 45,X/46,XY. Males with 45,X/46,XY frequently show stigmata typically associated with TS but data on cardiovascular patholog...

hrp0089wg5.4 | ESPE Paediatric and Adolescent Gynaecology Working Group (PAG) | ESPE2018

Endocrine-Metabolic Outcome of Women with a History of Sexual Precocity

de Vries Liat

Central precocious puberty (CPP) may have endocrine and metabolic implications in adulthood. Long-term effects may be associated with the underlying neuroendocrine dysfunction leading to CPP, the GnRH analogue (GnRHa) therapy, or both. Data are conflicting on the long-term risk of polycystic ovarian syndrome in both treated and untreated women. Clinical hyperandrogenism has been more frequently reported in CPP women than in controls, with no significant difference between GnRH...

hrp0089wg7.1 | ESPE Paediatric Endocrine Nurse Specialists and Allied Health Professionals Working Group (PENS) | ESPE2018

Advanced Anthropometrics in Pediatric Endocrinology: Utility and Difficulty

De Schepper Jean

Anthropometrics is an important part of pediatrics and public health. Its non-invasiveness, simplicity and low cost makes anthropometry attractive for several purposes. It is a valuable method for the screening or assessment of growth disorders, as well as under- and over-nutrition. Furthermore, specific anthropometric measures can be used as indicators of general fitness or cardiovascular risk factors (insulin resistance and dyslipidemia) in (obese) children, as well as marke...

hrp0082s6.2 | New Concepts in the Gonadotropic Axis | ESPE2014

New Syndromes Resulting in Secretory Pathway and Gonadotropic Axis Regulation Defects

de Roux N

Puberty is defined by the appearance of secondary sexual characteristics and the maturation of reproductive function. It is driven by an increase in sexual steroid hormone synthesis under the control of the gonadotropic axis. The key event in puberty initiation is an increase in the pulsatile release of the GnRH by hypothalamic neurons, triggering the release of LH and FSH. This pubertal increase in GnRH secretion is associated with increases in glutamatergic inputs and decrea...