hrp0084wg5.2 | Paediatric and Adolescent Gynaecology | ESPE2015

Preservation of Fertility Pre-Therapy

Grynberg Michael

We are in an exciting and interesting time, when pediatricians and reproductive endocrinologists across the globe rise to the challenge of providing fertility services for people with a history of gonadotoxic diseases. Indeed, developments in numerous medical fields have improved long-term survival rates for many diseases that strike children and young adults. However, to survive is no longer enough. The emphasis is shifting, to enable people to live a life as normal as possib...

hrp0097p1-544 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Clinical and laboratory characteristics of arginine vasopressin resistance and high carrier frequency of a novel homozygous variant p.R113C in the AQP2 gene among Buryats

Makretskaya Nina , Nanzanova Ulyana , Hamaganova Irina , Eremina Elena , Filatova Alexandra , Skoblov Mikhail , Tiulpakov Anatoly

Background: Congenital nephrogenic diabetes insipidus (arginine vasopressin resistance) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. About 90% cases nephrogenic diabetes insipidus is an X-linked recessive disorder caused by variants in the AVP V2 receptor gene (AVPR2). In the remaining cases (10%) the disease is autosomal recessive or dominant and, for these patients, variants in ...

hrp0097p1-577 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

High carrier frequency of a splicing c.589G>A variant in the SRD5A2 gene among Buryats

Makretskaya Nina , Nanzanova Ulyana , Kalinchenko Natalia , Hamaganova Irina , Eremina Elena , Filatova Alexandra , Skoblov Mikhail , Tiulpakov Anatoly

Background: 5-α-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during the fetal period. From 2017 to 2019, a homozygous hg38_chr2:31529414 C>T variant in SRD5A2 gene have been identified in 3 unrelated patients with DSD 46,XY of Buryat origin. The variant has been previously reported in one patient from China (Song et al, 2019) and l...

hrp0089p2-p379 | Thyroid P2 | ESPE2018

Encephalopathy Associated with Autoimmune Thyroid Disease: A Case Report

Lantigua Hector , Yafi Michael

Background: Encephalopathy associated with autoimmune thyroid disease (EAATD) is very rare in pediatrics. Contributing factors include: Sudden change is thyroid levels, cerebral vasculitis,endothelial inflammation or immune complex deposition, global cerebral hypoperfusion, as well as cerebral tissue-specific autoimmunity.The case: A 16-year-old female was diagnosed with hyperthyroidism and treated with Radio Iodine Ablation (RIA). Her total T4 level was...

hrp0084p3-722 | Diabetes | ESPE2015

Social Risk Assessment in Children with Diabetes Mellitus to Plan Medical and Social Care

Karpushkina Anna , Peterkova Valentina , Vartapetova Natalia , Dedyukina Elena , Philimonova Alla , Mikhailova Evgenia , Malievsky Oleg , Samoylova Yulia , Bashnina Elena , Khramova Elena , Shvabsky Oleg , Pankratova Maria , Starovoitov Mikhail

Background: According to the World Health Organization, the social determinants of health, the conditions in which people are born, grow, live and work – significantly influences on health. The CAF Foundation, the Endocrinology Scientific Center and the Institute for Family Health under the Alfa-Endo Program studied prevalence of some social determinants in families of children with type 1 diabetes mellitus.Objective and hypotheses: Investigate soci...

hrp0084p3-1244 | Turner | ESPE2015

GH Therapy in Turner Syndrome

Galesanu Corina , Loghin Andra Iulia , Ungureanu Didona , Galesanu Mihail Romeo

Background: Turner syndrome (TS) is one of the most common causes of short stature in females. Adult height of patients with TS is 20 cm shorter than in general population. GH therapy improves height outcome in girls with TS; results depend on age at diagnosis, duration of therapy, and doses of GH.Objective: To evaluate growth and safety during the first 4 years of GH treatment in patients with TS.Method: Eight prepubertal girls wi...

hrp0097p1-499 | GH and IGFs | ESPE2023

Growth characteristics and final height in survivors of childhood medulloblastoma.

Stern Eve , Ben Ami Michal , Caspi Shani , Lurye Michal , Abebe-Campino Gadi , Yalon Michal , Modan-Moses Dalit

Background and aim: Medulloblastoma is a highly malignant childhood brain tumor, requiring treatment with high dose cranio-spinal irradiation and aggressive chemotherapy. Survivors of are at high risk for multiple endocrine deficiencies, including growth retardation and growth hormone (GH) deficiency. Previous studies reported decreased final adult height in survivors of childhood medulloblastoma, with height standard deviation score (SDS) ranging from -1.9 to...

hrp0089p1-p043 | Diabetes & Insulin P1 | ESPE2018

The Effect of Social Burden on Paediatric Diabetes Outcomes

Sales-Luis Madalena , Smith Emma , Ajzensztejn Michal

Introduction: Type 1 diabetes has a major impact on not only the person diagnosed, but also their families/carers. Diabetes control is affected by many factors. Our diabetes patient cohort has a very high level of social burden which we feel impacts significantly on the management of their diabetes.Methods: We performed a retrospective analysis of all young people supported by the Evelina London Children’s Hospital diabetes team in 2017 looking at a...

hrp0084p2-167 | Adrenals | ESPE2015

Hyponatraemia Secondary to Exudative Eczema

Viseras Irene Pilar Fernandez , Ajzensztejn Michal

Background: Classically adrenal insufficiency presents with hyponatraemia and hyperkalaemia, however the differential may be of alternative origin. Atopic dermatitis is a common inflammatory skin disease of infancy and childhood. In severe cases, the exudation from wet lesions can produce serious complications such as infection+very rarely electrolytes abnormalities as seen in this case.Case report: A 6-month-old female infant was referred for endocrine ...

hrp0084p3-768 | Diabetes | ESPE2015

The Missing Link in Neonatal Diabetes

Viseras Irene Pilar Fernandez , Ajzensztejn Michal

Background: Neonatal diabetes mellitus (NDM) presents within 6months of life, is either permanent (PDM) or transient (TND). The incidence is 400 000/live births. Monogenic accounts for the majority of cases. We describe the case of what appears to be a familiar NDM with no current known cause.Case report: EM presented at 3 weeks old. She was born at term, IUGR (2.3 kg) with one day history of diarrhoea, vomiting and anorexia. There was no history of poly...