hrp0086fc5.3 | Management of Disorders of Insulin Secretion | ESPE2016

Glibentek, a New Suspension of Glibenclamide for Patients with Neonatal Diabetes, is as Effective and more Convenient than Crushed Tablets

Beltrand Jacques , Godot Cecile , Busiah Kanetee , Djerada Zoubir , Baron Sabine , Tallec Claire Le , Tessier Raphael , Ribault Virginie , Cartigny Maryse , Bruel Henri , Gozalo Claire , Treluyer Jean-Marc , Elie Caroline , Polak Michel

Background: Glibenclamide has proven to be efficient for patients with neonatal diabetes owing to potassium channel mutations. Anyway its pharmaceutical form is not suitable for young children or infants. The tablets dosage is too high for most infants and must be crushed and diluted before administration. We developed a suspension of glibenclamide (EMA Orphean drug designation january 2016) fitting recommendations of drug administration to allow a precise dosage and designed ...

hrp0084s7.2 | Hypogonadotropic hypogonadism: diagnostic and therapeutic approach | ESPE2015

Early Therapeutic Approach to the Male Patient with HH

Bouvattier Claire

In male fetuses, during the first 4–6 months of life, the ‘mini-puberty’ represents a period of intense hormonal activity of the hypothalamic–pituitary axis, reflected physically by an increase in testicular volume due to seminiferous tubule elongation and by an increase in penis length. During this period, pituitary LH and FSH levels rise, leading to an increase in circulating levels of testosterone, inhibin B and AMH. Concomitantly, Sertoli cells prolifer...

hrp0094p2-6 | Adrenals and HPA Axis | ESPE2021

Single centre experience of Hydrocortisone Granules (Alkindi) in children under 6 years of age with Adrenal Insufficiency

Snow Claire , Owen Catherine ,

Introduction: Children with Adrenal insufficiency (AI) are usually managed with glucocorticoid replacement as hydrocortisone. Treatment options in younger patients include administering an aliquot of 10mg hydrocortisone tablets dissolved in water. However, this is time consuming and may be inaccurate. We describe our experience of using Alkindi (www.diurnal.co.uk), the first hydrocortisone preparation licensed for children with AI.<stron...

hrp0084p3-1044 | Growth | ESPE2015

Value of Alkaline Phosphatase Assay in Short Stature Exploration

Naccache Alexandre , Gayet Claire , Wieliczko Marie Claire , Castanet Mireille

Background: Short stature is a common reason for pediatric endocrinologist consultation, but in many cases, no cause can be identified. Childhood hypophosphatasia has widely variable clinical features from short stature to low bone mineral density with skeletal deformities, and the place of serum alkaline phosphatase (ALP) activity assay could be raised as etiological exploration is not consensualObjective and hypotheses: The aim of our study was to eval...

hrp0092mte7 | Management of Graves Disease | ESPE2019

Management of Graves' Disease

Cheetham Tim , Lane Laura , Wood Claire

Managing Graves' disease (GD) should be simple. Stop the immune system from targeting the TSH receptor and the disease is cured. Unfortunately this is not yet feasible in most young people and GD is not a trivial condition for those affected. There are significant advantages and disadvantages of all current treatments with no easy way forwards for many and the family's decisions will reflect their perceptions of medical, radiation and surgical risk. The fact that two o...

hrp0094p2-27 | Adrenals and HPA Axis | ESPE2021

High doses op’-DDD cause metrorragia in young girls

Thomas-Teinturier Cecile , Bouvattier Claire , Linglart Agnes ,

Gynecomastia is a well-known effect of treatment with op’-DDD in male adults. Metrorragia in young girls is a less known effect because only a few children receive this drug, mostly for bad prognosis adrenocortical carcinoma. Moreover, it has been reported that op’DDD causes precocious puberty, but cases are not well documented. We report 2 cases of young girls receiving high-dose op’-DDD who presented recurrent metrorragia. Case 1: An 18 month old girl was diag...

hrp0089p2-p384 | Thyroid P2 | ESPE2018

Graves’s Disease During Pregnancy: The Impact on the Fetus and the Newborn

Belin Florine , Rodrigue Danielle , Claire Claire , Bouvattier , Teinturier Cecile , Fouati Khadidja , Linglart Agnes , Lambert Anne-Sophie

Introduction: Graves’s disease is frequent in women, its prevalence being 0.5–2% and its incidence 0.1–1% during pregnancy. Both TSH anti-receptor antibodies and the synthetic antithyroid drugs cross the placenta, increasing the risk of hypo- and/or hyperhtyroidism. Our objective is to describe the thyroid status of fetus and newborns from women with Graves’s disease referred to our Department.Materials and methods: We included childr...

hrp0086p1-p359 | Gonads &amp; DSD P1 | ESPE2016

Feasibility Study for Avoiding Early Surgery in Girls with 21-Hydroxylase Deficiency (21OHD)

Bougneres Pierre , Bouvattier Claire , Cartigny Maryse , Michala Lina

Background: Genital surgery in disorders of sex development (DSD) has been an area of debate over the past 20 years. One can question and even defy the routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence.Objective and hypotheses: To a...

hrp0086p1-p740 | Pituitary and Neuroendocrinology P1 | ESPE2016

Standard Triptorelin Therapy May Not Fully Suppress Pubertal Progress in Adolescents with Gender Dysphoria

Butler Gary , Lam Francis , Besser Rachel , Goedhart Claire , Brain Caroline

Background: Adolescents presenting with persistent gender dysphoria (GD) may undergo pubertal suspension via the use of GnRH analogues such as triptorelin (Gonapeptyl Depot) to allow further consideration of the dysphoria. Locally, a standard monthly dose of this drug is administered for an initial target duration of 12 months prior to re-assessment.Objective and hypotheses: The need to obtain full gonadotrophin and sex hormone suppression to ensure accu...

hrp0082fc1.2 | Adrenal | ESPE2014

Clinical Phenotype of Patients with MCM4 Mutation Suggests Pubertal Delay in Males in Addition to Adrenal Failure, Absent Adrenarche, and Short Stature in Boys and Girls

Hughes Claire , Clark Adrian , Metherell Louise , Costigan Colm

Background: We previously reported the first human mutation in mini-chromosome maintenance homologue 4 (MCM4) in a cohort of patients with adrenal failure, immunodeficiency and chromosomal fragility.Objective and Hypotheses: To report the full endocrine phenotype of 14 patients with MCM4 mutations.Method: Patients case notes were examined and investigations performed to fully assess adrenal function, pubertal development, gonadal f...