hrp0089p3-p284 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Infant with Osteogenesis Imperfecta and Panhypopituitarism: A Case Report

Arliena Amin , Zaini Azriyanti Anuar

Background: Osteogenesis imperfecta (OI) is a genetic disorder mostly associated with mutation in one of the two genes encoding a chains of collagen type 1 (COL1A1 and COL1A2). Severity of the symptoms varies widely, caused by increase bone fragility and low bone mass. However, there is no direct relation reported in osteogenesis imperfecta and panhypopituitarism.Clinical case: Nineteen months old boy was clinically diagnosed with osteogenesis i...

hrp0095p1-146 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Spectrum of Endocrinopathy in Children with Ectopic Posterior Pituitary (EPP)

Malhotra Neha , Amin Arliena , Cerbone Manuela , Bosch Laura , Tollerfield Sally , Atterbury Abigail , Katugampola Harshini , Dattani Mehul

Introduction: Ectopic posterior pituitary (EPP) is a radiological diagnosis likely caused by a migration defect that occurs during pituitary development. We aim to describe the clinical characteristics and hormonal deficiencies seen in patients with EPP.Method: Longitudinal observational study performed in a single [HK1] [NM2] centre from 1993-2020. As per MRI findings, cases were divided into three cohorts 1) C1: EPP on...

hrp0094p2-412 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

45,X/46,XY mosaicism: Phenotypic characteristics, growth, and gonadal features

Selveindran Nalini M , Wong Jeanne SL , Amin Arliena , Hong Janet YH

Introduction: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. The aim of this study is to provide outcomes, namely growth, comorbidities and gonadal function in patients with 45,X/46,XY mosaicism.Methods: This was a retrospective, longitudinal study conducted from January 2006 to January 2021 at a tertiary pediatric endocrine referral center. Patients' clinical presentation, karyotypes, height, hormonal profiles, imaging and histologic fi...

hrp0094p2-92 | Bone, growth plate and mineral metabolism | ESPE2021

Pseudohypoparathyroidism with hypokalemia and hypomagnesemia: association or separate entity?

Amin Arliena , Cheng Hooi Peng , Hua Hong Janet Yeow , Selveindran Nalini M , Lyn Wong Jeanne Sze ,

Introduction: Pseudohypoparathyroidism (PHP) is a group of heterogenous disorders characterized by end organ resistance to parathyroid hormone (PTH) action. In 1942, Fuller Albright first described the phenotype of Albright Hereditary Osteodystrophy (AHO) associated with end organ hormone resistance (brachydactyly, rounded face, short stature, central obesity, subcutaneous ossifications, and variable degrees of mental retardation). Recently EuroPHP network pro...