hrp0092p2-235 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Case of Gonadotropin-Independent Precocious Puberty Due to Germ Cell Tumor in the Frontal Lobe

Hacihamdioglu Bulent , Yalcin Koray , Suna Celen Safiye , Hazar Volkan

Introduction: It is known that gonadotropin-independent or peripheral precocious puberty (PPP) may develop due to tumors that secrete beta human chorionic gonadotropin (Beta-HCG). These tumors can be located in gonads, liver, mediastinum or central nervous system. HCG-producing tumors of the central nervous system are rare, most commonly seen in the suprasellar and pineal regions. However, any germ cell tumor (GCT) containing the syncytiotroblastic giant cell ...

hrp0089p3-p068 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Frontal Behavior Dysfunctions Revealing a Dramatic Progression of Complex Cranial Base Abnormalities in a Severe Osteogenesis Imperfecta

Porquet-Bordes Valerie , Grandgeorge Naia , Moulin Pierre , Cheuret Emmanuel , Boetto Sergio , Sales De Gauzy Jerome , Gennero Isabelle , Tauber Maite , Edouard Thomas , Salles Jean Pierre

Background: In our bone unit, we were following since their younger age, two brothers with a severe osteogenesis imperfecta. We had no genetic confirmation but the severity of the disease combined with unaffected consanguine parents argues for a recessive autosomal transmission. Both present with highly severe form of osteogenesis imperfecta: repeated vertebral and peripheral fractures, long bone deformations, centromedullary nails on the lower limbs, major motor handicap and ...

hrp0082fclb4 | Late Breaking Abstracts | ESPE2014

Does Severity of Hypothyroidism at Birth Contribute to Abnormal Cortical Development among Children with Congenital Hypothyroidism?

Rovet Joanne , Clairman Hayyah , Skocic Jovanka

Background: Despite early detection and treatment, children with Congenital Hypothyroidism show subtle persisting deficits in various cognitive abilities. Degree and type of deficit reflect CH severity at time of diagnosis. We reported (Rovet et al., ATA, 2012) children with CH had abnormal cortical morphology, consistent with animal evidence showing early thyroid hormone (TH) insufficiency affects cortical development. It is not known, however, whether these cortical...

hrp0094p2-437 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Rare genetic disorder associated with microphallus

Khan Khalid

Term male baby delivered by elctive c- section.On examination found to IUGR, hypotonic and microphallus less then 2 cms (stretched).Both testis were palpable. No other dysmorphic features noticed. Cranial ultrasound showed sub-ependymal cysts in the frontal region. Parents were concerned regarding his small penis. He was referred to physiotherapy for his low tone and had genetic and metabolic work up done for his persistent low tone. The testosterone levels were found to be lo...

hrp0092p2-54 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Crouzon Syndrome: A rare case report of a 2-month old boy with Micrognathia and Proptosis

Zhang Cai , Luo Xiaoping , Hou Ling

Objective: To diagnose a 2-month old boy with micrognathia and proptosis.Method: We summarized the clinical manifestations of the patient. Blood tests and imaging examinations were performed. DNA was isolated from peripheral blood cells. Whole exosome sequencing (WES) was conducted. Copy number variation (CNV) and loss of heterozygosity (LOH) was analyzed by Affymetrix CytoScan.Result</stro...

hrp0089p1-p140 | Fetal, Neonatal Endocrinology and Metabolism P1 | ESPE2018

Sexual Dimorphism of IGF1 and IGF2 Expression in the Neonatal Rat Brain

Guerra-Cantero Santiago , Torrecilla Marta , Diaz Francisca , Argente Jesus , Chowen Julie

Insulin-like growth factor (IGF) 2 plays a fundamental role in prenatal growth and development. The IGF2 gene is imprinted, with the paternally inherited copy being active and the maternal copy being silenced in most tissues. During development, the expression of IGF2 is sexually dimorphic in some tissues and this is thought to be involved in the development of some sexually dimorphic features. For example, IGF2 expression is reported to be higher in the male brain co...

hrp0089p3-p372 | Thyroid P3 | ESPE2018

Dento - Maxillary and Periodontal Changes in Puberty/Adolescence in Subclinical Hypothyroidism of Autoimmune Cause

Circo Eduard , Gosu Cristina , Ibadula Seila , Circo Razvan

Introduction: The development of the dentomaxillary system in children involves a normal thyroid function. Juvenile hypothyroidism has different complications depending on the congenital or acquired nature of it.Objective: To identify periodontal changes under the conditions of chronic autoimmune thyroiditis and subclinical hypothyroidism.Material and method: The study group comprised 24 young patients, 15 girls and 9 boys (15.2&#1...

hrp0086p2-p171 | Bone &amp; Mineral Metabolism P2 | ESPE2016

About a Case of a Family of Pycnodysostose

Rouabah Nadira , Bioud Belkacem

Background: The pycnodysostose is a genetic lysosomal disease wich is characterized by a ostéosclérose of the skeleton, a small and an osseous brittleness. The pycnodysostose is very rare, its exact prevalence is unknown but it is lower than 1/100,000. The disease is discovered at a variable age, has going from 9 months to 50 years. Transmitted according to a recessive autosomic mode of to a deficit in cathepsine K enzyme which plays a central role in the osseous res...

hrp0086p1-p808 | Syndromes: Mechanisms and Management P1 | ESPE2016

Identification of 11p14.1-p15.3 Deletion Probably Associated with Short Stature, Macrocephaly and Delayed Closure of the Fontanelles

Dateki Sumito , Watanabe Satoshi , Kinoshita Fumiko , Yoshiura Koh-ichiro , Moriuchi Hiroyuki

Background: Interstitial deletions of the short arm of chromosome 11 are rare chromosomal anomalies, and are considered to be associated with several clinical conditions including WAGR syndrome.Objective: To report the clinical and molecular findings in the first case of a heterozygous 11p14.1-p15.3 deletion.Patient: A Japanese female patient was born at 39 weeks of gestation after an uncomplicated pregnancy and delivery. At birth,...

hrp0082p2-d1-538 | Puberty and Neuroendocrinology | ESPE2014

Acute Exposure of Endocrine Disruptor does not Induce Oxidative Stress in the Rat’s Brain

Kumar Neeraj , Sharma Varsha

Background: The ever increasing uses of electronic gadgets are becoming a widespread source of Bisphenol-A accumulation. As studies have been reported that low level BPA accumulation may produce neurological effects but still limited studies have re-examined for its adverse effects in terms of acute exposure from electronic devices.Objective and hypotheses: To investigate the effects of BPA on oxidative damage in terms of activity level of antioxidant en...