hrp0092mte8 | Management of Neonatal Hypoglycaemia | ESPE2019

Management of Neonatal Hypoglycaemia

Mohnike Klaus

Transition from intrauterine to extrauterine life is a vulnarable time and needs special attention by health professionals. Although only a small group of infants are at-risk for transitory, recurrent or permanent hypoglycemia prompt diagnosis and effective treatment had to avoid permanent brain injury. Neonatologists are aware of hypoglycemia in premature as well as in small for gestational age infants, however lower limits of blood glucose are often debated with endocrinolog...

hrp0084p3-791 | DSD | ESPE2015

‘Female’, ‘Male’, or ‘Between’ in a 46, XY-Patient with a 17ß-HSD3-Mutation

Willig Rolf Peter , Algenstaedt Petra , Mohnike Klaus , Hiort Olaf

Background: 46, XY-disorders of sex development (DSD) are due to different causes like androgen insensitivity, gonadal dysgenesis, defects in testosterone metabolism and others. Exact diagnosis is mandatory prior to medical advice, therapeutic steps, or even surgical procedures. To show the difficulties of gender assignment before and also after a correct diagnosis we describe a patient who waited 35 years for the complete diagnosis, but was advised, treated and operated befor...

hrp0092fc9.6 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

[18F]F-DOPA-PET/MRI or /CT in Children with Congenital Hyperinsulinism

Empting Susann , Mohnike Konrad , Barthlen Winfried , Michel Peter , Wieland Ilse , Zenker Martin , Mohnike Wolfgang , Mohnike Klaus

Congenital hyperinsulinism (CHI) is a complex heterogeneous disease affecting 1 in 40.000 newborns. Recurrent hypoketotic hypoglycaemia led to permanent mental and motor disabilities in 30-40% of children. Histologically three types had been differentiated: focal, diffuse and atypical. Up to now, only focal-type CHI can be permanently cured by focus removal. Focal-type CHI is characterized by paternal inherited mutation of ABCC8 or KCNJ11 mutations. Therefore mutation anal...

hrp0082p1-d2-1 | Adrenals & HP Axis | ESPE2014

Allelic Frequencies of CYP21A2 Variants and Genotype–Phenotype Correlations in a Cohort of 660 CAH Patients from Germany and Austria*

Riedl Stefan , Rohl Friedrich-Wilhelm , Empting Susann , Bonfig Walter , Dorr Helmuth-Gunther , Holl Reinhard , Mohnike Klaus

Background: Congenital adrenal hyperplasia (CAH) due to a CYP21A2 defect (autosomal recessive) leads to salt wasting (SW), simple virilizing (SV), or non-classical (NC) phenotypes basically depending on residual 21-hydroxylase (21-OH) function on the least affected allele.Objective and Hypotheses: To test prediction of CAH phenotype based on genotype classification.Method: Patient data from 37 centers were retrieved from a...

hrp0084fc9.5 | Beta cell disorders | ESPE2015

The Use of Glucagon for Management of Severe-Persistent Hypoglycaemia in Patients with Congenital Hyperinsulinism

Thornton Paul , Truong Lisa , Kinzel John , Empting Susann , Mohnike Klaus , Banerjee Indi

Background: Severe-persistent hypoglycaemia (SPH) in congenital hyperinsulinism (HI) can cause blindness and brain damage. First line treatment with diazoxide treatment can cause significant side effects, including fluid retention. Off-label use of i.v. reconstituted glucagon is also used but little safety and efficacy data have been reported.Objective and hypotheses: To evaluate the use of i.v. glucagon infusion for management of SPH in HI.<p class=...

hrp0084p1-36 | Diabetes | ESPE2015

Somatic Paternal UPD on Chromosome 11p15 in Focal Form of Congenital Hyperinsulinism (CHI) Causes Monoallelic Expression of Mutant ABCC8 and KCNJ11

Dallmann Ina , Vogelgesang Silke , Barthlen Winfried , Varol Emine , Mohnike Wolfgang , Empting Susann , Mohnike Klaus , Zenker Martin , Wieland Ilse

Background: Congenital hyperinsulinism (CHI) is a disorder characterised by dysregulation of insulin secretion that leads to severe hypoglycaemia in neonates and infants. The focal form of CHI is caused by an autosomal recessive mutation in the genes ABCC8 or KCNJ11 inherited from the father and a second somatic event in the affected islet of Langerhans.Objective: We report molecular genetic examination of focal pancreatic lesions of patients receiving t...

hrp0094p2-284 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Associations between height and health-related quality of life (HRQoL) and functional independence in children with achondroplasia

Irving Melita , Savarirayan Ravi , Arundel Paul , Polgreen Lynda E. , Mohnike Klaus , Ozono Keiichi , Saunders Michael , Fisheleva Elena , Huntsman-Labed Alice , Day Jonathan

Background and Objectives: Achondroplasia (ACH) is characterized by severe short stature with a height deficit of approximately 6 SDS below that of average stature. Our objective was to evaluate the impact of height deficit on health-related quality of life (HRQoL) and functional independence in children with ACH.Methods: Height Z-score, HRQoL, and functional independence data were obtained from children with ACH who enr...

hrp0095p1-88 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

An Ongoing Phase 2 Study of HM15136, a Novel Long-acting Glucagon Analogue, in Subjects with Congenital Hyperinsulinism (ACHIEVE, Outline Protocol)

Shin Wonjung , Kang Jiyeon , Lee Grace , Maria Arbelaez Ana , Banerjee Indi , Dastamani Antonia , Mohnike Klaus , Okawa Erin , Cho Hyungjin , D De León Diva

Congenital hyperinsulinism (CHI) is an ultra-rare disease characterized by excessive insulin secretion that results in persistent hypoglycemia. If left untreated, CHI-induced severe prolonged hypoglycemia may lead to permanent neurologic damage. Currently used pharmacologic agents fail to prevent hypoglycemia in a subset of patients with CHI. HM15136 is a novel long-acting glucagon analogue that have demonstrated good stability and extended half-life ranging from 77 to 167 hou...

hrp0094p1-72 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Clinical characteristics of children with Congenital Hyperinsulinism: Results from the European Registries for Rare Endocrine Conditions (EuRRECa) Project

Plachy Lukas , Bryce Jillian , Mohnike Klaus , Gan Hoong-Wei , Shaikh Guftar , Rozenkova Klara , Mozzillo Enza , Maltoni Giulio , Navardauskaite Ruta , Casteels Kristina , Stuart Annemarie Verrijn , Dastamani Antonia , Empting Susann , Verkauskiene Rasa , Ahmed S. Faisal , Sumnik Zdenek ,

Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described.Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa net...

hrp0092p1-157 | Adrenals and HPA Axis (1) | ESPE2019

Influence of Salt Supplementation on Drug Therapy in Children with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency Aged 0-3 Years: Update on a Retrospective Multicentre Analysis Using the I-CAH Registry

Neumann Uta , van der Linde Annelieke , Krone Ruth , Guven Ayla , Güran Tülay , Elsedfy Heba , Darendeliler Feyza , Bachega Tania , Balsamo Antonio , Hannema Sabine , Birkebaek Niels , Vieites Ana , Acerini Carlo , Cools Martine , Milenkovic Tatjana , Bonfig Walter , Costa Eduardo , Atapattu Navoda , de Vries Liat , Filho Guilherme , Korbonits Marta , Mohnike Klaus , Bryce Jillian , Ahmed Faisal , Voet Bernard , Blankenstein Oliver , van der Grinten Hedi Claahsen

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...