hrp0095lb16 | Late Breaking | ESPE2022

Glucose variability in 6–12-month-old healthy infants

Hauschild Michael , Monnard Cathriona , L. Eldridge Alison , Hansen Erik , A. Dwyer Andrew , Rytz Andreas , Darimont Christian

Background: Continuous glucose monitoring (CGM) devices are novel tools to measure the impact of dietary intake on glucose rhythms/metabolism in children. There is a significant gap in the literature on glycemic response in healthy, term infants and young children up to 2 years of age.Objective: To investigate glucose excursions in response to infant feeding, using CGM in healthy 6–12-month-old infants.<p class...

hrp0098rfc4.5 | Adrenals and HPA Axis 1 | ESPE2024

Ontogenesis of the urinary steroid metabolome in infancy assessed by gas chromatography/mass spectrometry (GC-MS)

Rakicioglu H , Pons-Kuehnemann J , Hartmann M , A. Wudy S

Introduction: The steroid metabolism of the newborn and infant is subject to rapid changes and is extremely difficult and complex to assess. Of all analytical techniques, the platform technology of GC-MS allows the most comprehensive assessment of the entire steroid metabolome and this approach is also non-invasive.Method: In order to characterize the essential changes in steroid metabolism during infancy, a total of 355...

hrp0089p2-p073 | Diabetes &amp; Insulin P2 | ESPE2018

A Novel Mutation in Phka2: Idiopathic Ketotic Hypoglycaemia May Represent Mild Gsdixa

Flejsborg Anne Benner , Brusgaard Klaus , Pedersen Carsten , Frederiksen Anja L , Christesen Henrik T

Background: Idiopathic ketotic hypoglycaemia (IKH) is an exclusion diagnosis and the most common cause of hypoglycaemia in childhood. Glycogen Storage disease (GSD) type IX comprises one quarter of all GSD’s. GSDIXa, encoded by PHKA2, is the most frequent subtype.Objective: To investigate whether IKH may be undiagnosed GSDIXa.Methods: Hospital file review and next generation sequence 29 gene GSD-panel.<p class="ab...

hrp0092p3-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Extreme Hypercalcaemia: Watch for Glycogen Storage Disease Type 1a with Hyperinsulinism

christesen henrik , Nielsen Rasmus G , Lund Allan M , Cananguez Arlen A , Schou Anders J

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...

hrp0086fc7.1 | Gonads &amp; DSD | ESPE2016

Early Loss of Germ Cells in Testis of Androgen Insensitivity Syndrome Patients

Aliberti Paula , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Solari Alberto J. , Sciurano Roberta , Ponzio Roberto , Costanzo Mariana , Guercio Gabriela , Warman Diana M. , Mutti Maria L. Galluzzo , Lubieniecki Fabiana , Bailez Marcela , Rivarola Marco A. , Belgorosky Alicia , Berensztein Esperanza B.

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

hrp0084p2-278 | Diabetes | ESPE2015

Neonatal Diabetes – Experience from a Single Centre in Sri Lanka

Atapattu Navoda , Vithanage Vasundara , de Silva Kirikankanange Shamya Harshini , de Silva Daham Haresha , Jayathilaka Mala Mangalika , Hattersley Andrew T , Ellard Sian , Flanagan Sarah E , Houghton J A L , Hussain Khalid

Background: Neonatal diabetes (NDM) is a rare form of monogenic diabetes which usually presents before 6 months of age. Both transient and permanent NDM have been described.Objective: To report the molecular genetics and clinical characteristics of patients with NDM from a single centre in Sri Lanka.Method: Retrospective analysis of clinical and molecular genetic data from patients referred to Lady Ridgeway Hospital Endocrinology u...

hrp0084p2-523 | Puberty | ESPE2015

Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes

Correa Fernanda A , Franca Marcela M , Canton Ana P M , Otto Aline P , Costalonga Everlayny F , Brito Vinicius N , Carvalho Luciani R , Costa Silvia , Arnhold Ivo J P , Jorge Alexander A L , Rosenberg Carla , Mendonca Berenice B

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

hrp0094ha1 | A Global Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Outcomes in Participants Aged &lt;25 Years | ESPE2021

A Global Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Outcomes in Participants Aged <25 Years

Pignolo Robert J. , Baujat Genevieve , Brown Matthew A. , De Cunto Carmen L. , Hsiao Edward C. , Keen Richard , Al Mukaddam Mona , Le Quan Sang Kim-Hanh , Marino Rose , Houchard Aude , Kaplan Frederick S. ,

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification (HO) following flare-ups. The median age at diagnosis is 5 years, and patients are managed by multiple specialties. No study to date has provided a longitudinal evaluation of FOP. Final data are presented for participants, aged <25 years, enrolled in the first 36-month, prospective, global natural history study of FOP (NCT02322255).</...

hrp0084p3-611 | Adrenals | ESPE2015

Methodological Considerations into the Approach for Genetic Diagnostics of Congenital Adrenal Hyperplasia in a Girl with SW Form and Relatively Higher Needs of Mineral Corticoids

Dineva Ganka , Stoeva Iva , Kirov Andrey , Todorova Albena , Iliev Daniel , Kaleva Narcis , Grozdanova L

Background: 80–95% of congenital adrenal hyperplasia (CAH) cases are due to mutations in the CYP21A2 gene encoding 21 hydroxylase. The residual activity of the gene defines the clinical form. Routine mutational screening of CYP21A2 defects is shown to effectively support the complex diagnostic and treatment procedure of newborns with CAH.Objective: We aimed to characterise the phenotype of a girl with compound heterozygosity of ...

hrp0094p2-449 | Thyroid | ESPE2021

Congenital multinodular goiter causing acute airway obstruction in a newborn: a case report

Mirjam Scheffer-Rath , Katharina Löhner , Nitash Zwaveling-Soonawala , Boot Annemieke

Introduction: Multinodular goiter is an extremely rare condition in neonates and can account for tracheal airway compression.Case report: A newborn girl presented immediately after birth with an inspiratory and expiratory stridor and a visible swelling in the neck. She was born term after an uneventful pregnancy with a birth weight of 3.26 kg. The mother had no known thyroid disease and had not used antithyroid or goitrogenic medication. She had a normal...