hrp0084p2-251 | Diabetes | ESPE2015

Sick Day Rule: Survey of Parents of Children with Type 1 Diabetes (Experience and Knowledge)

Agwu Juliana Chizomam , Ng S May , Drew J , Edge J , Kershaw M , Wright N , Gardner C

Background: Inappropriate management of illness/stress, accidental or deliberate insulin omission are some of the causes of Diabetes ketoacidosis (DKA) in patients with established diabetes. During illness, patients with type 1 diabetes are advised to monitor for hyperglycaemia and ketosis, maintain fluid intake and if required, to administer supplemental insulin. Previous studies have confirmed that comprehensive diabetes self- management education (DSME) programs on manageme...

hrp0082fc13.1 | Thyroid | ESPE2014

Massive Sequencing of Thyroidal Genes Reveals Unexpected Polygenic Defects in Dyshormonogenic Hypothyroidism

Iglesias A , Garcia M , Ventura P , Pozo J , Clemente M , Audi L , Corripio R , Garikano K , Polak M , del Pozo A , Visser T J , Moreno J C

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

hrp0092p3-130 | Fat, Metabolism and Obesity | ESPE2019

Acanthosis Nigricans as a Presentation of Severe Insulin Resistance in Obese Children

Krajewska Maria , Nowaczyk Jędrzej , Labochka Dominika , Kucharska Anna

Acanthosis nigricans is a common skin presentation of insulin resistance. We may observe different forms of its sevirity. Pathogenesis of this disorder is correlated with an action of insulin to keratinocyte and dermal fibroblasts via interaction with IGFR1.We'd like to present a medical history of two patients admitted to our clinic because of severe acanthosis nigricans. Boys were at the age of 13 and 14 years. We diagnosed carbohydrate metabolism ...

hrp0082p2-d1-419 | Growth Hormone | ESPE2014

Pubertal Development During GH Treatment with or without Additional GnRH Analogue Treatment in Short Children Born Small for Gestational Age

van der Steen M , Lem A J , Hokken-Koelega A C S

Background: GH treatment is effective in improving adult height (AH) in short children born Small for Gestational Age. If SGA children are short at the start of puberty, they could benefit from combined GH/GnRH Analogue (GnRHa) treatment.Objective and hypotheses: To determine the timing and progression of pubertal development in short SGA children, comparing GH treatment with combined GH/GnRHa treatment.Method: For the present stud...

hrp0082p3-d2-851 | Growth (3) | ESPE2014

Growth pattern of the nigerian child compared to international references

Elusiyan Jerome , Ibekwe MaryAnn Ugochi , Alkali Y , Agwu J. Chizo

Background: There are currently no specific growth charts for use in Nigerian children over the age of 5 years. Health workers rely on charts developed by the Center for Disease Control for children in USA (2000CDC US) or the UK 1990 growth charts for British children. It is unknown whether Nigerian children grow to the same height or at the same tempo as American or British children.Objective and hypotheses: To compare the growth of the Nigerian child t...

hrp0084p1-145 | Miscelleaneous | ESPE2015

Clinical Follow-up of the First SF-1 Deficient Female Patient

Gerster Karine , Biason-Lauber Anna , Schoenle Eugen J

Background: Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY) mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum that ranges from complete testicular dysgenesis with Müllerian structures and amenorrhea, through individuals with mild clitoromegaly or genital ambiguity, to severe penoscrotal h...

hrp0084p2-310 | DSD | ESPE2015

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Maris Ellen , Looijenga L H J , Cools Martine

Background: Individuals with androgen insensitivity syndrome (AIS) have an increased risk for developing a germ cell cancer (GCC). The risk is low during childhood; therefore, gonads are commonly preserved until after puberty. Little is known about GCC development in AIS during adulthood. This question is particularly relevant as many adult AIS women decline gonadectomy.Objective and hypotheses: To gain insight in attitudes towards gonadectomy in various...

hrp0097p1-483 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Incidence of Perinatal Stress Hyperinsulinism Requiring Diazoxide Treatment in Newborn Infants

Rafferty Deborah , Truong Lisa , Nedrelow J , Thornton Paul

Background: The incidence of perinatal stress hyperinsulinism (PSHI) requiring diazoxide treatment is estimated to be 1:12,000 (Hoe et al., 2006). Diazoxide is used to treat PSHI, but it has been shown to have adverse effects including pulmonary hypertension. Gray et al, reported that of 1.25 million infants admitted to NICUs for hypoglycemia over a period of 18 years, only 1066 received diazoxide suggesting 1:1172 babies had HI however 92% o...

hrp0084p2-406 | GH & IGF | ESPE2015

Metabolic Health in Short Children Born Small for Gestational Age Treated with GH and GnRHa: Results of a Randomised, Dose-response Trial

van der Steen M , Lem A J , van der Kaay D C M , Waarde W M Bakker-van , van der Hulst F J P C M , Neijens F S , Noordam C , Odink R J , Oostdijk W , Schroor E J , Sulkers E J , Westerlaken C , Hokken-Koelega A C S

Background: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure. Long-term effects and GH-dose effects on metabolic health in children treate...

hrp0092p1-267 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Endocrine Profiling and Association with Ultrasound Measured Testicular Volume and Biometrics in a Cohort of Norwegian Boys

Madsen André , Oehme Ninnie , Bruserud Ingvild , Roelants Mathieu , Sagen Jørn , Mellgren Gunnar , Júlíusson Pétur

Introduction: Male puberty is initiated by endocrine signaling in the hypothalamic-pituitary axis whereby follicle-stimulating hormone (FSH) and luteinizing hormone (LH) enable testicular maturation and synthesis of testosterone. Recent publications have eluded to overnutrition and obesity as relevant factors that may accelerate the timing of puberty. Attainment of testicular volume (TV) 4 ml measured by Prader orchidometer remains the definition of male puber...