hrp0082p2-d3-617 | Turner Syndrome | ESPE2014

Early Occurrence of Gonadoblastoma Found at Elective Gonadectomy in Turner Syndrome Mosaic for Y Chromosome

MacMahon J , Morrissey R , McDermott M , O'Sullivan M , Quinn F , Green A , Lynch S A , O'Connell S M

Background: Turner syndrome (TS) is one of the most common genetic disorders in females and occurs in phenotypic females who are missing all or part of one sex chromosome. While the most common mosaic forms of the disorder are 45,X/46,XX and 45,X/46,Xiq, mosaicism for cells containing Y chromosome material is well documented.Objective and hypotheses: Owing to increased risk of gonadoblastoma (GB), current recommendations are for elective gonadectomy foll...

hrp0082p2-d3-619 | Turner Syndrome | ESPE2014

A Child with Clinical and Cytogenetic Features of Male Edward Syndrome and Turner Syndrome with Bilateral Gonadoblastoma in Infancy

MacMahon J , Morrissey R , McDermott M , Quinn F , Green A , Lynch SM

Background: Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,Xiq, although mosaicism including the presence of a Y chromosome has been well documented. It is associated with increased risk of gonadoblastoma (GB).Objective and hypotheses: To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X, 47,XY+18 karyotype.Metho...

hrp0084wg3.4 | DSD | ESPE2015

I-DSD and I-CAH Registry Update

Ahmed Faisal , Bryce J , Jiang J , Watt J , Rodie M E

Background: Whilst adhering to the highest standards of data governance and security, the International DSD Registry (www.i-dsd.org) and the International CAH Registry (www.i-cah.org) allow standardised collection of data and promote multicentre collaboration across national boundaries and across multiple clinical and research disciplines.Results: By April 2015, over 1600 cases had bee...

hrp0082s7.1 | Controversies in the Surgical Management of DSD | ESPE2014

Evolution of Feminising Genitoplasty

Pippi-Salle J L

Great controversy exists in regard to the timing and technical alternatives to perform feminizing genitoplasty in children. Opponents to an early approach argue that the reconstruction can be risky in terms of clitoral/vaginal function therefore surgery should be postponed until the patient herself can sign an informed consent and be aware of potential risks as well as confirms the desire to undergo the procedures. Such negative feelings in regard to early reconstruction are b...

hrp0082p2-d2-432 | Growth Hormone (1) | ESPE2014

Growth Hormone Treatment in Children with SGA During a 5-Year Period, Assessment of Auxological Development and Insulin Resistance

Lopez-Siguero J P , Martinez-Aedo M J , Bermudez J A , Cabrinety N , Bosch J , Lechuga J L , Torralba R

Background: Treatment with GH of children born SGA allows an increase in growth velocity (GV) and improves adult height. Increased insulin resistance has been described in these patients, which reverts after interrupting GH administration. However, long-term metabolic consequences are not clearly established.Objective and hypotheses: Describe insulin resistance (HOMA-IR index) and auxological development (GV and height) in SGA children treated with GH fo...

hrp0086p1-p565 | Perinatal Endocrinology P1 | ESPE2016

Different Long-term Neurodevelopmental Outcomes in Very Preterm Versus Very-low-birth-weight Infants

Hollanders Jonneke J , Schaefer Nina , van der Pal Sylvia M , Rotteveel Joost , Finken Martijn J J

Background: Birth weight (BW) is often used as a proxy for gestational age (GA) by studies on preterm birth. Recent data indicate that the terms very-low-birth-weight (VLBW; BW <1500 g) and very preterm (VP; GA <32 weeks) birth are not equivalent with regard to perinatal outcomes and postnatal growth up until final height. It is unknown whether the differences between these terms could be extended to long-term neurodevelopmental outcomes.Objectiv...

hrp0084fc10.5 | Perinatal Endocrinology | ESPE2015

Lack of Association between Transient Hypothyroxinaemia of Prematurity and Neurodevelopmental and Behavioral Outcomes in Young Adulthood

Hollanders Josephina J , Israels Joel , van der Pal Sylvia M , Rotteveel Joost , Finken Martijn J J

Background: Preterm newborns are at risk of becoming transiently hypothyroxinaemic, which has been associated with neurodevelopmental impairments in childhood. It is not known whether these associations persist into adulthood.Objective and hypotheses: We studied the relation between transient hypothyroxinaemia of prematurity and IQ, neuromotor functioning and problem behaviour at young adult age.Method: This was a prospective study...

hrp0092p2-107 | Fat, Metabolism and Obesity | ESPE2019

Childhood Obesity and Iron Metabolism

Sousa Bebiana , Galhardo Júlia

Introduction: Hypoferraemia is the most common nutritional deficiency worldwide and a leading cause of potential developmental disorders in children. Obesity seems to be associated with this condition, but it is still unclear if it is caused either by depleted iron stores, diminished availability, or both.Aim: To analyse the relationships between childhood obesity, iron metabolism and inflammation....

hrp0092p3-132 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Recurrent Apnea in a Boy Suffering from Congenital Hyperinsulinism in the Course of Diazoxide Treatment

Nowaczyk Jedrzęj , Kucharska Anna

Congenital hyperinsulinism (CHI) is rare disease which prevalence is estimated as 1:2500 to 1:50000 born newborns. Main reason of the disease are genetic mutations in genes responsible for regulation of insulin secretion. First line treatment is diazoxide therapy.Our patient was diagnosed with CHI at the age of 2 months. Biochemical tests prooved diagnosis of CHI. He presented lack of negative feedback and secreted pathologic amount of insulin – dur...

hrp0084fc13.6 | Thyroid | ESPE2015

TRIAC Treatment of Allan-Herndon-Dudley Syndrome (AHDS) due to Defects in Thyroid Hormone Transporter MCT8

Iglesias A , Gomez-Gila A L , Casano P , del Pozo J , de Mingo M C , Pons N , Calvo F , Obregon M J , Bernal J , Moreno J C

Background: AHDS is a devastating disease caused by defects in the thyroid hormone (TH) transporter MCT8. Endocrine expression is heralded by systemic hyperthyroidism with elevated serum T3, mildly increased TSH and decreased T4. However, the brain is hypothyroid, causing severe psychomotor retardation. Therapeutic attempts with PTU+levothyroxine or the T3-analogue DITPA could normalize TH derangements but without any neurological improvement. ...