hrp0094p2-378 | Pituitary, neuroendocrinology and puberty | ESPE2021

The effect of 3 years of Gonadotropin-Suppressive Therapy in Girls with Early Puberty: Height Z Score in Relation to Mid-Parental height Z score.

Alaaraj Nada , Soliman Ashraf , Hamed Noor , Ahmed Shayma , Alyafei Fawzia ,

Introduction: Early and fast puberty (EFP) in girls, defined as pubertal onset at age 8-9 yr., with an accelerated course, may cause compromised final adult height (FAHt). Treatment with a gonadotropin-suppressive agent is still controversial because the improvement in FAHt is equivocal and there may be a risk of overweight.Aim of the study: We analyzed the data of 24 girls with EFP treated with GnRH analog (GnRH) since Tanner stage 2-3,...

hrp0097p1-5 | Adrenals and HPA Axis | ESPE2023

Glucose profiles of children with classical congenital adrenal hyperplasia: lesson from continuous glucose monitoring

Nguyen Quoc Adrien , Galderisi Alfonso , Kariyawasam Dulanjalee , Stoupa Athanasia , Pinto Graziella , Viaud Magali , Brabant Severine , Beltrand Jacques , Polak Michel , Samara-Boustani Dinane

Background: While the risk for hypoglycemia during acute illness is well described in children with classical congenital adrenal hyperplasia (CAH), there is little evidence for the prevalence of asymptomatic hypoglycemia in CAH. We explored the glucose profile of children with classical CAH by the use of continuous glucose monitoring (CGM).Methods: We conducted an observational study in children aged 1-6 years with a dia...

hrp0097p2-315 | Late Breaking | ESPE2023

A case report of a novel mutation in AR gene in two sisters with 46-XY Karyotype

Rostami Parastoo , Mohsenipour Reihaneh

Introduction: Phenotype gender is the outcome of a long and coordinated set of fetal events that are controlled by genetic factors, hormonal factors and environmental factor. In the case of the 46XY fetus, SRY gene on chromosome Y determines the gender and cause bipotential gonad change to testes. And other factors such as sertolli cell by secreting anti-Mullerian hormone which leads to regression of the structures rooted in the paramesonephric ducts (tubes, w...

hrp0095p1-224 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

High Vitamin Deficiency Throughout Childhood. Inma-Asturias Cohort. Spain

Rodríguez-Dehli Cristina , Fernández-Somoano Ana , Riaño-Galán Isolina , Venta Rafael , Tardon Adonina

Background: Vitamin D (25OHD) insufficiency is becoming a public health issue. Adequate 25OHD status during pregnancy may influence the health status of the offspring.Objective: To evaluate the levels of 25OHD from gestation to 12 years, assessing seasonality and intake.Material and methods: Data were obtained from 485 pregnant mothers recruited in Asturias between 2004-2007 and th...

hrp0095p1-470 | Fat, Metabolism and Obesity | ESPE2022

High carbohydrate diet results in sex-specific differences in energy homeostasis in mice with PAPP-A2 deficiency

J. López Gambero Antonio , del Mar Fernández-Arjona María , De Ceglia Marialuisa , Rubio Leticia , Rivera Patricia , Vargas Antonio , Vera-Fernández Carlos , Rodríguez de Fonseca Fernando , A. Chowen Julie , Argente Jesús , Suárez Juan

The growth hormone (GH)-insulin-like growth factor (IGF-1) system is essential for optimal human growth and energy homeostasis. Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease involved in the liberation of free IGF-1, leads to problems in growth and bone density in humans and mice. Patients with PAPP-A2 deficiency also present lower body mass and mild glucose intolerance. The present study aimed to determine the influence of 1 month of high carbohydr...

hrp0095p1-476 | Fat, Metabolism and Obesity | ESPE2022

Do Integrase Inhibitors Alter Body Composition in Young Patients Living with Hiv? The Experience with A Dolutegravir-Based Regimen

Mora Stefano , Genovese Camilla , Stracuzzi Marta , Sala Elisa , Lanzafame Ruggero , Pitea Marco , Giacomet Vania

Medical antiretroviral treatment changed dramatically the course of the infection and life expectancy of people living with HIV (PLWH). However, age-dependent morbidity and mortality remains high, mostly due to non-HIV related conditions. Among others, cardiovascular diseases is nowadays an important cause of morbidity in PLWH. Integrase inhibitors are now part of the standard treatment scheme, because of their efficacy and tolerability. However, recent reports showed an impor...

hrp0095p1-363 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Medium-and long-term follow-up observation of the efficacy and safety of GnRHa in the treatment of five cases of central precocious puberty caused by hypothalamic hamartoma

Huang Siqi , Meng Zhe , Liu Zulin , Zhang Lina , Hou Lele , Ou Hui , Liang Liyang

Background: Hypothalamic hamartoma (HH) is the most common cause of organic central precocious puberty (CPP). Gonadotropin-releasing hormone analogue (GnRHa) is widely used in the treatment of HH combined with CPP, but there is no report on the medium-and long-term efficacy and safety of HH in China.Objective: To investigate the medium-and long-term efficacy and safety of GnRHa in the treatment of children with CPP cause...

hrp0095p1-590 | Thyroid | ESPE2022

Immunoglobulin Superfamily 1 (IGSF1) Deficiency: A Rare Cause of Isolated Congenital Hypothyroidism in Two Siblings

MacGloin Helen , Bhushan Arya Ved , Schoenmakers Nadia , Buchanan Charles

Introduction: The Newborn Screening Programme (NBS) enables earlier diagnosis of congenital hypothyroidism (CH). However, cases of central congenital hypothyroidism (CCH) are missed in countries which use thyroid stimulating hormone (TSH) based screening strategy. Understanding the pathogenic aetiology of CCH is particularly important because many patients have additional pituitary hormone deficiencies. New genes have been implicated in CCH, including the rece...

hrp0095p2-265 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Gynecomastia and Short Height;45,X[2]/ 46,X, +mar[28] karyotype

Derya Buluş Ayşe , Dünya Betül , Yaşartekin Yüksel , Cevdet Ceylan Ahmet

Introduction: Physiological pubertal gynecomastia is common in adolescents aged 13-14 years. Most physiological pubertal gynecomastia regresses spontaneously within 1-2 years. In studies: If it lasts more than 2 years, if prepubertal has started, endocrine evaluation is recommended. Sex differentiation disorders or genital abnormalities such as increased aromatase activity, adrenal/testicular neoplasia, partial androgen insensitivity syndrome and Klinefelter s...

hrp0092fc5.1 | Thyroid | ESPE2019

Randomised Trial of Block and Replace Versus Dose Titration Antithyroid Drug Treatment in Children and Adolescents with Thyrotoxicosis

Wood Claire , Cole Michael , Donaldson Malcolm , Dunger David , Matthews John , Pearce Simon , Cheetham Tim

Background: First line treatment for thyrotoxicosis is thionamide (TA) antithyroid drug therapy. The TA used is usually Carbimazole in the UK. TA can be administered in a relatively large 'blocking' dose that prevents endogenous thyroid hormone synthesis, requiring thyroid hormone replacement (block and replace or BR), or in a smaller dose that renders the patient euthyroid (dose titration or DT). The American Thyroid Association (ATA) recommends DT be...