hrp0092p2-169 | GH and IGFs | ESPE2019

Experience of Growth Hormone Therapy in Two Cases with Congenital Adrenal Hypoplasia

Suman Gök Ebru , Direk Gül , Uzan Tatli Zeynep , Akin Leyla , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Introduction: DAX1 (NROB1) mutation, that is among the causes of primary adrenal insufficiency; is revealed with X-linked congenital adrenal hypoplasia and hypogonodotropic hypogonadism. Growth hormone (GH) deficiency is not common in affected individuals. In the literature, there are few cases of GH treatment . growth hormone therapy in two cases with DAX1 gene mutation were evaluated in clinical features and treatment responses.<strong...

hrp0092p2-189 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Anophthalmia, Micrognathia, Combined Pituitary Hormone Deficiency, Severe Growth Retardation and Liver Dysfunction Induced Levothyroxine Sodium Powder in a Boy with Microdeletion of 14q22q23

Koyama Satomi , Naganuma Junko , Tsuboi Yayoi , Suzumura Hiroshi , Yoshihara Shigemi

Background: Microdeletion of 14q22q23 results in a rare chromosomal disorder associated with microphthalmia/anophthalmia, pituitary anomalies, polydactyly/syndactyly, micrognathia, growth restriction and mental retardation. Haploinsufficiency of the genes OTX2 (orthodenticle homeobox 2) and BMP4 (bone morphogenetic protein 4) are responsible for most of the phenotypic features in the 14q22q23 microdeletion syndrome. There are only a few reports about liver dys...

hrp0092p3-291 | Late Breaking Abstracts | ESPE2019

Rare Causes for Paediatric Virilizing Tumors

Suntharesan Jananie , Atapattu Navoda , Prematilake Dilusha , Hashim Raihana , Gunasekara Buddhi , De silva Dimarsha

Introduction: Excessive androgen secretion from gonads, adrenal gland and tumors arising from germ cells lead to gonadotropin independent precocious puberty in male and virilization in females. Rapid progression of symptoms with peripheral precocity need urgent evaluation to identify the underlying etiology. We report three cases of malignancy with excess androgen secretion within a year in a tertiary care children hospital in Sri Lanka....

hrp0089p2-p056 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

First Reported Cases of a Novel Variant of GNAS 1 Gene

Fafoula Olga , Panagiotakou Argyro , Grivas Grigorios , Fryssira Eleni , Kosteria Ioanna , Korovessi Paraskevi , Kostaridou Stavroula

Background: GNAS 1 gene (guanine nucleotide binding protein, alpha stimulating) encodes the alpha subunit of the stimulatory guanine nucleotide-binding protein (G-protein). Variations in the GNAS 1 can cause several disorders including Pseudohypoparathyroisism Type 1A (PHP1A), Type 1B (PHP1B), Type 1C (PPHP1C), Progressive Osseous Heteroplasia (POH), Pseudopseudohypoparathyroidism (PPHP) and McCune-Albright syndrome (MAS).Objectives: To report 2 patients...

hrp0089p3-p062 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Idiopathic Juvenile Osteoporosis: Common Symptoms in an Uncommon Condition

Uppal Saurabh , Senniappan Senthil , Dharmaraj Poonam , Hughes David

Introduction: Osteoporosis in children and young people can be primary due to Osteogenesis Imperfecta (OI) or secondary to chronic disease. We report 2 patients with Idiopathic Juvenile Osteoporosis (IJO), a rare primary osteoporotic disorder.Case 1: A 12 year old boy presented with 12 months of lower back pain and stiffness, against a background of chronic pain in knees, wrist and ankles. There was no history of fractures or systemic disease. Examinatio...

hrp0089p1-p092 | Diabetes &amp; Insulin P1 | ESPE2018

Association of the Sizes and Composition of HDL with Hepatic Steatosis in Adolescents with Type 2 Diabetes (T2D)

Antonio Orozco Morales Jose , Torres Tamayo Margarita , Medina Urrutia Aida , Gabriel Juarez Rojas Juan , Reyes Barrera Juan , Jorge Galarza Esteban , Dies Suarez Pilar , Medina Bravo Patricia

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. The association between T2D and non-alcoholic fatty liver disease (NAFLD) has been described; this increases the risk of coronary heart disease (CHD). Recent evidence suggests that sizes and composition of HDL may be more important that HDL-C levels in predicting CHD. There is not data regarding the HDL subclasses distribution and composition in T2D youths with hepatic steatosis (HE).<p c...

hrp0089p2-p318 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

SOX3 Gene Duplication Associated with Midline CNS Malformations, Hypopituitarism and Neurodevelopmental Abnormalities: 5 Unrelated Cases

Chawla Garima , Nambisan Aparna K.R. , Arya Ved B. , Muhi-Iddin Nadia , Vamvakiti Katia , Ajzensztejn Michal , Hulse Tony , Buchanan Charles R. , Kapoor Ritika R.

Introduction: Duplications of SOX3 at Xq27.1 are known to be associated with a spectrum of midline defects, isolated/multiple pituitary hormone deficiencies and learning difficulties. We report 5 cases of SOX3 duplication with hypopituitarism and differing presentations. 1)Male neonate presented with poor feeding and prolonged jaundice. Investigations revealed central hypothyroidism and inadequate cortisol response to Synacthen. Appropriate hormone replacemen...

hrp0086p2-p305 | Diabetes P2 | ESPE2016

Thiamine Responsive Megaloblastic Anemia Due to SLCA19A2 Gene Mutation: Another Cause of Neonatal Diabetes with Succcesfull Switch from Insulin to Thiamine

Bas Serpil , Akbarzade Azad , Atay Zeynep , Gurbanov Ziya , Guran Tulay , Turan Serap , Franco Elisa De , Ellard Sian , Bereket Abdullah

Itroduction: Thiamine responsive anemia (TRMA) known as Rogers syndrome; is an early-onset, autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Diabetes in this condition is well described in infancy but has only very rarely been reported in association with neonatal diabetes.Case: 3-months old male patient with neonatal diabetes was admitted to our outpatient clinic because of uncontrolled hy...

hrp0097p1-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

An adolescent boy with PLS3 mutation causing severe thoracic kypho-scoliosis

Kilci Fatih , Jones Jeremy , Gürpınar Gözde , Koçyiğit Esra , Çakır Özgür , Ceylaner Serdar , Alanay Yasemin , Mine Çizmecioğlu-Jones Filiz

Introduction: Mutations of the PLS3 gene (MIM 300910), encoding plastin 3, are an extremely rare cause of osteogenesis imperfecta (OI). It has an X-linked inheritance and is characterized by early-onset osteoporosis and kyphosis, which can cause compression fractures, especially in the thoracic vertebrae. Although there are reports showing that bisphosphonates are effective in improving the bone mineral density of patients with PLS3 variants,...

hrp0097p1-218 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Osteoporosis pseudoglioma syndrome: a case report of a child with osteoporosis and impaired vision

Iordanidou Aikaterini , Toulia Ilektra , Adamidou Fotini , Kosta Konstantina , Papadopoulou Anna , Roilides Emmanouel , Papagianni Maria

Introduction: Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive disease which is caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene and is characterized by severe early – onset osteoporosis and vitreoretinal complications leading to blindness by young adulthood.Case presentation: We present a case of an 8 years old boy, who was initially referred to our d...