hrp0098rfc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Microarchitectural Alterations in Children with Rheumatological conditions on Long term Glucocorticoid Treatment

Yuet-ling Tung Joanna , Hung Vivian , Poon Sarah , Pang Gloria , Chan Eugene , Ma Alison , Cheong Kai-ning , Choi Florence , Ping Lam Tsz

Introduction: Osteoporosis is well described among children with rheumatological conditions. Data on the specific bone deficits and microarchitectural alterations in this group of children are limited. This study aimed to assess the bone microarchitectural alterations in children with rheumatological conditions on long-term glucocorticoids using high-resolution peripheral quantitative computed tomography (HR-pQCT).Methods:</stron...

hrp0095p2-297 | Thyroid | ESPE2022

Discrimination between transient and permanent congenital hypothyroidism in patients with eutopic thyroid gland

Kim Chan Jong

Introduction: Congenital hypothyroidism (CH) is diagnosed with neonatal screening and treated early in the neonatal period. Among these patients, transient congenital hypothyroidism (TCH) is included and requires re-evaluation. In this study, we aimed to identify factors that would allow discrimination between permanent and transient hypothyroidism in patients with eutopic thyroid gland.Methods: We retrospectively analyz...

hrp0092p3-125 | Fat, Metabolism and Obesity | ESPE2019

Fasting C-Peptide: A Useful Tool for Diagnosis of Type II Diabetes Mellitus in Overweight / Obese Adolescents Living in a Poor Resources Setting

Bodieu Chetcha Adele , Fomenky Njiandock Cecilia , Dehayem Mesmin , Sobngwi Eugene

Case Report: Two cases of type 2 diabetes mellitus (among which 1 case of metabolic syndrome) previously taken as type 1 diabetes mellitus in adolescents are presented and the evaluation and management are discussed. There was a family history of Diabetes mellitus in one of the adolescent. Both of them had signs of insulin resistance, they were overweight and obese respectively, poorly controlled on premix insulin. The laboratory test revealed a high HbA1C, dy...

hrp0098p3-198 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

A baby grown up with central hypothyroidism

Chung Yau Ho , Yan Chan Suk , Yee Chan Ka

We report a 12-year-old boy who has grown up with central hypothyroidism diagnosed since newborn. The boy was born at 41 weeks of gestation with birth weight of 3520 gram. Newborn screening detected abnormal thyroid function – Cord blood TSH 0.86 mIU/L and free T4 6.76 pmol/L, day 6 TSH 0.63 mIU/L and free T4 9.65 pmol/L. History revealed no history of maternal thyroid disease nor family history of thyroid disease, no drugs or herbs intake during pregnancy, and no sympto...

hrp0086p1-p749 | Pituitary and Neuroendocrinology P1 | ESPE2016

Age of Onset of Puberty in Yaounde, Which Normative Reference Data?

Sap Suzanne , Komba Darelle , Sobngwi Eugene , Obama Marie Therese , Koki Paul Olivier , Mbanya Jean Claude

Background: The age of onset of puberty varies from country to another and, within every country, from one socioeconomic group to another. In Sub-Saharan Africa, particularly in Cameroon, there is paucity of data on this topic.Objective and hypotheses: To determine clinically meaningful normative reference data that describe the timing of sexual maturity indicators among Cameroonian children and to determine factors that influence the onset of this matur...

hrp0089p3-p027 | Adrenals and HPA Axis P3 | ESPE2018

Adrenocortical Tumours in Children – A Case Series

Hua Chan Si , Farhad Vasanwala Rashida

Background: Paediatric adrenocortical tumours (ACT) are rare and typically present with virilising symptoms and signs which can be similar to other virilising conditions such as congenital adrenal hyperplasia.Case description: We describe three cases of ACT diagnosed and managed at our institution over the past 10 years. The three girls presented with symptoms of virilisation. The mean interval between first symptoms and diagnosis was 19.6 months (rangin...

hrp0097p1-380 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A novel mutation of androgen receptor in a patient with complete androgen insensitivity syndrome

Jong Kim Chan , Hwan Chang Seong

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by mutation in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a crucial role in male sexual differentiation and development. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male shows some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, par...

hrp0098p3-131 | GH and IGFs | ESPE2024

Comparison of Growth Hormone Stimulation Tests in Prepubertal Children with Short Stature According to Response of Growth Hormone Replacement

Hwan Chang Seong , Jong Kim Chan

Introduction: Growth hormone (GH) stimulation tests are essential tools for diagnosing growth hormone deficiency (GHD) as a serum peak GH level less than 10 µg/L on two separate tests. We aim ed to compare L-dopa, insulin, and arginine-induced stimulation tests based on the response to GH replacement.Methods: We retrospectively collected data from a review of patients who underwent the GH stimulation test. A total ...

hrp0098p3-273 | Late Breaking | ESPE2024

A rare cause of acute salt wasting crisis in infancy: Case report of Type 1 aldosterone synthase deficiency with CYP11B2 mutation

Yee Chan Ka , Ming Wong Lap

Background: Aldosterone is a steroid hormone synthesized in the zona glomerulosa of the adrenal cortex. It is important for homeostasis of plasma sodium and potassium levels. Isolated aldosterone synthase deficiency can result in acute salt-losing crisis, severe hyperkalemia, metabolic acidosis, and failure to thrive.Case presentation: An 18-day-old boy, born to consanguineous parents, presented to our hospital for failu...

hrp0089rfc5.6 | Thyroid | ESPE2018

DUOX2 Deficiency in Quebec: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism

Dufort Gabrielle , Larrivee-Vanier Stephanie , Eugene Dardye , De Deken Xavier , Heinimann Karl , Szinnai Gabor , Van Vliet Guy , Deladoey Johnny

Background: Congenital hypothyroidism (CH) caused by DUOX2 deficiency has a wide range of clinical presentations and phenotype-genotype correlations are not always straightforward.Objective: To describe four children from Quebec with biallelic DUOX2 variants and widely variable phenotypes.Design/Methods: Case series of four children seen for evaluation of thyroid function at the endocrinology service of two university hospitals in ...