hrp0094p2-186 | Fat, metabolism and obesity | ESPE2021

Diagnostic accuracy of Tri-Ponderal mass index (kg/m3) for identifying glucose intolerance in obese children and adolescents.

Arciniegas Larry , Mogas Eduard , Tomasini Rosangela , Fabregas Ana , Clemente Maria , Yeste Diego ,

Introduction: The identification of obese patients with increased susceptibility and risk for glucose intolerance and type 2 diabetes requires an oral glucose tolerance test (OGTT). Reference values for Body mass index (BMI) and Tri-Ponderal mass index (TMI) according to age and sex of healthy children in Spain without malnutrition or obesity have recently been published (*). TMI values remain very uniform in both boys and girls from the age of 8 to 18 years, ...

hrp0094p1-50 | Sex Endocrinology and Gonads A | ESPE2021

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

McGlacken-Byrne Sinead M , Torres Ignacio Del Valle , Stabej Polona Le Quesne , Belutti Laura , Ocaka Louise , Ishida Miho , Suntharalingham Jenifer P , Genomics UCL , Discovery GOSgene , Resource Human Developmental Biology , Dattani Mehul T , Kelberman Dan , Lagos Carlos F , Livera Gabriel , Conway Gerard S , Achermann John C ,

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...

hrp0094p2-442 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia

Vlachopapadopoulou Elpis-Athina , Fotiadou Anatoli , Picard Jean-Yves , Achilleos Orthodoxos , Lamprinou Zoe , Tzortzopoulou Adelais , Passalidis Alexandros , Michalacos Stephanos

Background: Persistent Müllerian duct syndrome (PMDS) is a Disorder of Sex Development (DSD) caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its type II receptor (AMHR2) with autosomal recessive transmission. Objective: To report a case of transverse testicular ectopia (TTE), associated with PMDS, initially presented as an obstructed inguinal hernia.Case presentation: An 18- days- old male infant, wi...

hrp0082fc13.1 | Thyroid | ESPE2014

Massive Sequencing of Thyroidal Genes Reveals Unexpected Polygenic Defects in Dyshormonogenic Hypothyroidism

Iglesias A , Garcia M , Ventura P , Pozo J , Clemente M , Audi L , Corripio R , Garikano K , Polak M , del Pozo A , Visser T J , Moreno J C

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

hrp0084p2-288 | Diabetes | ESPE2015

Functional Condition of the Kidneys (K/DOQI, 2002) by ACE Gene I/D Polymorphism in Children and Adolescents with Type 1 Diabetes Mellitus

Rakhimova Gulnara , Sadikova Akida , Alimova Nasiba

Aim: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Materials and methods: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years; 95% CI: 13.3...

hrp0082p2-d1-328 | Diabetes | ESPE2014

Functional Condition of the Kidneys (K/DOQI, 2002) By ACE Gene I/D Polymorphism in Children and Adolescents with Type I Diabetes Mellitus

Sadykova Akidahon , Rakhimova Gulnara

Objective and hypotheses: The work was initiated to assess functional condition of the kidneys and to study interrelation between ACE gene I/D polymorphism and stage of chronic kidney disease in children and adolescents with type 1 diabetes mellitus (DM) in compliance with K/DOQI recommendations (2002).Method: We examined 120 children and adolescents with type 1 DM, 53 (44.2%) males and 67 (55.8%) females among them (mean age 13.8±0.24 years. GFR wa...

hrp0089p3-p271 | Multisystem Endocrine Disorders P3 | ESPE2018

Polyostotic Fibrous Dysplasia of McCune Albright Syndrome Responding to Intravenous Zoledronate Therapy

H K Ganesh , K M Girisha

Introduction: McCune Albright Syndrome consists of at least 2 of the following 3 features: (1) polyostotic fibrous dysplasia (PFD), (2) Café au lait macules and (3) autonomous endocrine hyperfunction (eg, gonadotropin-independent precocious puberty). Other endocrine syndromes include hyperthyroidism, acromegaly, and Cushing syndrome.Case: 2 year old girl presented with severe hip pain, inability to walk and progressive deformity of right lower limb....

hrp0089p3-p302 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Effect of Triptoreline in Patients with Central Precocious Puberty at Children’s Hospital 1, Ho Chi Minh City, Vietnam

Huynh Loan , Tran Huyen

Precocious puberty is defined by the development of secondary sexual characteristics before the age of 8 in girls and before the age of 9 in boys. If not diagnosed and treated at an early stage, precocious puberty can compromise final adult height and trigger psychological disturbances. Gonadotropin- releasing hormone analogs (GnRHa) contributes to achievement of target final height by reducing the acceleration of bone maturation.Objectives: To analyze c...

hrp0082p1-d3-197 | Pituitary | ESPE2014

Congenital Nasal Pyriform Aperture Stenosis and Pituitary Abnormalities: Case Series of 20 Patients and a Management Guideline for Early Identification of Pituitary Insufficiency

Chen Suet Ching , McDevitt Helen , Clement W Andrew , Wynne David M , Mason Avril , Donaldson Malcolm , Ahmed S Faisal , Shaikh M Guftar

Introduction: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with holoprosencephaly, of which solitary median maxillary central incisor (SMMCI) is the least severe form. Studies have described pituitary abnormalities in up to 40%. We aimed to determine the use of baseline endocrine investigations and MRI brain in assessing endocrine dysfunction.Method: Retrospective casenote ...

hrp0082fc5.5 | Neuroendocrinology | ESPE2014

Characterization of IGFI Receptor Expression and Localization in Paediatric Gliomas Upon Diagnosis According to WHO 2007 Grading

Clement Florencia , Venara Marcela , Maglio Silvana , Martin Ayelen , Matho Cecilia , Petre Cesar , Lombardi Mercedes Garcia , Bergada Ignacio , Pennisi Patricia

Background: Gliomas are the most common subgroup of CNS tumours in children. Histologic grading is a means of predicting the biological behavior of these tumours and survival is strongly correlated with tumour gradation. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. Recently, nuclear translocation of the type 1 IGF1R has been demonstrated in tumour tissues. Although the IGF1R expression has been described in C...