hrp0089p1-p049 | Diabetes & Insulin P1 | ESPE2018

Life Changing Decisions due to Etiological Genetic Diagnosis in Families of Children with Maturity Onset Diabetes of the Young (MODY)

Bril Gherta , Vaxillaire Martine , Gruber Noah , Mazor-Aronovitch Kineret , Ben-Ami Michal , Ben-David Rachel Frumkin , Yeshayahu Yonathan , Sand Olivier , Bonnefond Amelie , Froguel Philippe , Pinhas-Hamiel Orit

Background: Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of disorders characterized by pancreatic beta-cell dysfunction, and usually referred to monogenic forms of diabetes mellitus to distinguish them from the more common type 1 (T1D) or type 2 diabetes (T2D). Fourteen different MODY genetic subtypes have been identified so far. Making a definite diagnosis is very challenging because of overlapping clinical phenotypes between diabetes subtypes. Neverth...

hrp0086fc15.1 | Late Breaking | ESPE2016

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of development

Baetens Dorien , Stoop Hans , Peelman Frank , Todeschini Anne-Laure , Rosseel Toon , Coppieters Frauke , Veitia Reiner , Looijenga Leendert , De Baere Elfride , Cools Martine

Background: While many causes of 46,XY disorders of sex development (DSD) have been elucidated, the mechanisms leading to 46,XX testicular or ovotesticular DSD are poorly understood. It has been hypothesized that both conditions may represent a phenotypic spectrum and that they might be caused by (different) mutations in the same genes.Methods: Whole exome sequencing was used to identify the molecular cause in ten unrelated patients with 46,XX (ovo)testi...

hrp0086p1-p799 | Syndromes: Mechanisms and Management P1 | ESPE2016

NPR2 Gene Mutations Associated with Acromesomelic Dysplasia Maroteaux Type are Mostly Unique to Families

Castro-Feijoo Lidia , Barreiro Jesus , Guillen-Navarro Encarna , Journel Hubert , Wakeling Emma , Jagadeesh Sujatha , LeMerrer Martine , Silva Paula , Cabanas Paloma , Pombo Manuel , Loidi Lourdes

Background: Acromesomelic dysplasia Maroteaux type (AMDM) (OMIM 602875) is a rare autosomal recessive skeletal disorder with an approximate prevalence of 1/1,000,000) and characterized by severe dwarfism accompanied by shortness of distal and middle segments of extremities. Mutations in the NPR2 gene which encodes for the natriuretic peptide receptor B (NPR-B) is the underlying genetic cause of this disorder.Objective and hypotheses: Genetic con...

hrp0082p2-d3-350 | Diabetes (2) | ESPE2014

Wellbeing of Adolescents with Type 1 Diabetes: Influence of Metabolic Control and Family Factors

Vanbesien Jesse , Berlanger Laurence , Bohler Susanne , Laridaen Jolien , Gies Inge , Van Aken Sara , De Waele Kathleen , Cools Martine , Maris Ellen , Vanderfaeillie Johan , De Schepper Jean

Background: Adolescence is often a period of worse metabolic control and less wellbeing in diabetic children. We studied global (GW) and diabetic-related (DRW) wellbeing in diabetic adolescents and the influence of sex, age, ethnic origin, family composition (single- or two-parent family), family income and metabolic control.Method: 133 (71 girls, 120 autochthonous, 20 treated with CSII, 107 from a two-parent family, 68 from families with a monthly incom...

hrp0082p2-d1-564 | Sex Development | ESPE2014

46,XY Neonates and Infants with Ambiguous Genitalia: Who to Investigate?

Baetens Dorien , Mladenov Wilhelm , Chiaie Barbara Delle , Desloovere An , Iotova Violeta , Menten Bjorn , Van Laecke Eric , Hoebeke Piet , De Baere Elfride , Cools Martine

Background: Extensive and time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20% of 46,XY cases with ambiguous genitalia. It is currently unclear if such extensive screening might also be indicated in 46,XY newborns with milder undervirilization.Method: All 46,XY neonates and infants (n=32, EMS 2–12) referred to our pediatric endocrine service for atypical male genitalia in the period 2007–2013 were inve...

hrp0084p3-1102 | Pituitary | ESPE2015

Clinical Characteristics of Children with Congenital Combined GH Deficiency without Associated Syndrome in Belgium

Zeevaert Renate , Verlinde Franciska , Thomas Muriel , De Zegher Francis , Cools Martine , Heinrichs Claudine , Beauloye Veronique , France Annick , Lebrethon Marie-Christine , Massa Guy

Background: Despite the fact that pituitary stalk interruption syndrome (PSIS) is a frequent finding in children with combined GH deficiency (CGHD), clinical data are still limited and the growth response to GH treatment has not been evaluated in comparison with CGDH with a normal stalk.Objective and hypotheses: To report the clinical and hormonal findings and evaluate the short term growth response to GH in Belgian children with congenital non-syndromat...

hrp0094fc8.2 | Neuroendocrinology | ESPE2021

Recessive PRDM13 mutations result in hypogonadotropic hypogonadism and cerebellar hypoplasia

Gregory Louise C. , Whittaker Danielle E , Oleari Roberto , Quesne-Stabej Polona Le , Williams Hywel J. , UCL GOSgene , Torpiano John G , Formosa Nancy , Cachia Mario J. , Field Daniel , Lettieri Antonella , Ocaka Louise , De Martini Lisa Benedetta , Rajabali Sakina , Riegman Kimberley L. , Paganoni Alyssa J.J. , Chaya Taro , Robinson Iain C.A.F. , Furukawa Takahisa , Cariboni Anna , Basson M. Albert , Dattani Mehul T. ,

Three patients from two unrelated families in Malta; one consanguineous (siblings: Patient 1, male and Patient 2, female) and one non-consanguineous (Patient 3, male), manifested hypogonadotropic hypogonadism with delayed puberty, intellectual disability, scoliosis, and ataxia with cerebellar hypoplasia on MRI. GnRH tests revealed low peak LH and FSH concentrations in the patients: Patient 1; LH 2.3 IU/L, FSH 4.4 IU/L (14.3y), Patient 2; LH 3.6 IU/L, FSH 6.4 IU/L (12.5y), Pati...

hrp0092p1-155 | Thyroid | ESPE2019

Congenital Hypothyroidism Newborn Profile After a Lower TSH Cutoff for Neonatal Screening in Southern Brazil

RIZZOTTO MARCIA INES BOFF , Kopacek Cristiane , de Castro Simone Martins , Ribeiro Sabliny Carreiro , Madi Jose Mauro , Garcia Rosa Maria Rahmi

Introduction: The ideal TSH filter value (TSHf) in the neonatal screening tests for Congenital hypothyroidism (CH) is worldwide controversial. Local cutoff point of TSHf was 9.0 mIU/L until recently. OBJECTIVE: To evaluate the clinical and laboratory characteristics of newborns with CH (confirmatory serum TSH > 10 mIU/L) after a lower TSH cutoff. METHODS: Cross-sectional study using data from Neonatal Screening Reference Center of State Rio Grande do Sul, ...

hrp0086p1-p45 | Adrenal P1 | ESPE2016

Polymorphisms Analyze in Gene CYP21A2 Gene Associated with Congenital Adrenal Hyperplasia

Jorgens Prado Mayara , Maria Dornelles da Silva Claudia , Grandi Tarciana , Martins de Castro Simone , Kopacek Cristiane , Lucia Rosa Rossetti Maria

Congenital adrenal hyperplasia is an autosomal recessive inborn error of metabolism due to impaired activity of one enzyme required for cortisol biosynthesis. Steroid 21-hydroxylase (21OH) deficiency is the cause in more than 90% of the patients. The 21OH is encoded by the CYP21A2 gene located on the chromosome 6 in the region known as the RCCX module. Due to the high homology and tandem-repeat organization of the RCCX module, this region of the genome is subjected to...

hrp0082p3-d1-709 | Diabetes | ESPE2014

Continuous Subcutaneous Insulin Infusion Therapy in Preschool Children with Type 1 Diabetes Mellitus

Moinho Rita , Martins Dora , Almeida Angela , Maia Estefania , Batista Nanci , Aveiro Lina , Capitao Rita , Cardoso Rita , Dinis Isabel , Mirante Alice

Background: A good metabolic control in preschool children with type 1 diabetes (DM1) is particularly challenging, being easier and safer with continuous subcutaneous insulin infusion (CSII) compared with multiple daily injections (MDI).Objective and hypotheses: Evaluate and compare metabolic control of preschool children with DM1, before and 9 months after CSII therapy.Method: Analytical retrospective study of children under the a...