hrp0082p2-d3-479 | Hypoglycaemia | ESPE2014

The Majority of Late Presenting Congenital Hypoglycaemia Disorders are Really Missed Diagnosis: What Can we do to Improve Diagnosis in the New-Born Period?

Troung Lisa , Thornton Paul

Background: Patients with hyperinsulinism (HI) and anterior hypopituitarism often present in the new-born period (NBP). However up to 30% patients with HI and an unknown number with hypo-pit will present in the first year of life. Despite advances in care the long-term neurological outcome for patients with HI is poor in 20-40% cases.Aim: To retrospectively evaluate the care given during the NBP in a series of patients diagnosed with late presenting pote...

hrp0084p1-157 | Miscelleaneous | ESPE2015

How do Adolescent Minors Banking Sperm Before Cancer Therapy Subsequently use the Fertility Service? A Post Banking Re-Evaluation

Pigot James , Michaelidou Maria , Williamson Elizabeth , Webb Alison , Gan Hoong-Wei , Spoudeas Helen

Background: Gonadotoxic cancer therapy may cause adult male infertility. We previously reported that, of 2/3rds of underage males agreeing to pre-treatment sperm cryopreservation before cancer treatment, 2/3rds succeeded.Objective and hypotheses: i) To evaluate how many patients banking sperm successfully (GP1) returned for post treatment re-evaluation compared with those who attempted but failed (GP2). ii) To compare intergroup survival and fertility ra...

hrp0084p3-1107 | Pituitary | ESPE2015

Between 3 to 4 Years after Severe Traumatism Brain Injury 22% at Least of Children and Adolescents do have Persistent Pituitary Dysfunction

Dassa Yamina , Personnier Claire , Crosnier Helene , Chevignard Mathilde , Bourgeois Marie , Viaud Magali , Polak Michel

Background: Traumatic brain injury (TBI) is common in childhood but long-term endocrine consequences are yet to be documented by prospective data.Objective and hypotheses: We have previously demonstrated in prospective study that, 1 year after severe accidental TBI (ATBI) or inflicted TBI (ITBI), children and adolescents may present pituitary and growth hormone (GH) dysfunction. We present here the follow-up of this population to determine whether or not...

hrp0097p1-430 | Diabetes and Insulin | ESPE2023

What do they eat? Calculation of carbohydrate, fat and protein intake in children with type 1 diabetes (T1D) by use of an image based analysis by smartphone.

Bachmann Sara , Steiner Gioia , Claude Fabien , Hess Melanie , Szinnai Gabor , Burckhardt Marie-Anne

Background: Carbohydrate counting is essential in diabetes management to match insulin doses to carbohydrate intake. Though recommendations concerning macronutritient composition exist (ISPAD Clinical Practice Consensus Guidelines 2022: Nutritional management in children and adolescents with diabetes), fat and protein intake is usually not calculated. Therefore, little is known if these recommendations are followed. Lower carbohydrate intake is reported to be ...

hrp0097p1-358 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Do gonadotropin releasing hormone analogues increase the total body fat mass and body mass index in girls with idiopathic central precocious puberty?

Donbaloğlu Zeynep , Singin Berna , Barsal Cetiner Ebru , Aydin Behram Bilge , Bedel Aynur , Tuhan Hale , Parlak Mesut

Aim: Gonadotropin-releasing hormone analogues (GnRHa) are widely used in the treatment of idiopathic central precocious puberty (ICPP) cases due to premature maturation of the hypothalamus-pituitary-gonad axis. The effect of GnRHa therapy on body weight and fat distribution is controversial in the literature. We aimed to examine the anthropometric measurements and body composition analysis of the girls with ICPP and to investigate the effect of related factors...

hrp0086p1-p358 | Gonads & DSD P1 | ESPE2016

Do the Anti-Mullerian Hormone Levels of Adolescents with Polycystic Ovarian Syndrome (PCOS), Those Who Are at Risk for Developing PCOS, and Those Who Exhibit Isolated Oligomenorrhea Differ from those of Adolescents with Normal Menstrual Cycles?

Savas-Erdeve Senay , Keskin Meliksah , Sagsak Elif , Cenesiz Funda , Cetinkaya Semra , Aycan Zehra

Background: An elevated anti-Müllerian hormone (AMH) level might serve as a noninvasive screening or diagnostic test for PCOS in adolescents.Objective and hypotheses: We explored whether the AMH levels of adolescents with PCOS, ‘at-risk-of-PCOS’, and isolated oligomenorrhea, differed from those of adolescents with normal menstrual cycles, and we identified an AMH level that was potentially diagnostic of PCOS.Method: ...

hrp0086p1-p898 | Thyroid P1 | ESPE2016

Do Different Initial Doses of L-T4 within the Range of 10-15 mcg/kg/day Influence Neurodevelopment during the First Two Years of Life in Children with Congenital Hypothyroidism?

Esposito Andrea , Bravaccio Carmela , Bruzzese Dario , Cassio Alessandra , Gastaldi Roberto , Mussa Alessandro , Peroni Elena , Polizzi Miriam , Vigone Maria Cristina , Wasniewska Malgorzata Gabriela , Weber Giovanna , Salerno Mariacarolina

Background: The initial L-T4 dose currently recommended in the treatment of congenital hypothyroidism (CH) is 10–15 mcg/kg per day.Objective and hypotheses: We designed a multicenter randomized trial to evaluate the effects of different starting doses of L-T4 within the range 10–15 mcg/kg per day on neurocognitive development in children with CH.Method: Seventy-two children with CH diagnosed by neonatal screening were enr...

hrp0084p2-275 | Diabetes | ESPE2015

Do Pancreatic Functions Predict Cardiac and Liver Iron Loading in Transfusion-Dependent β-Thalassemia Major Patients Using Cardiovascular and Liver T2-Star (T2*)Magnetic Resonance?

Mokhtar Galila , Ibrahim Wafaa , Elbarbary Nancy , Matter Randa , Ibrahim Ahmed , Sayed Safa

Background: Regular and frequent red blood cell transfusions have significantly increased the life expectancy of patients with β-thalassemia major (β-TM). However, when no appropriate chelation therapy is available, patients accumulate iron in the heart, liver, spleen, pancreas, and endocrine glands, leading to progressive organ dysfunction.Objective and hypotheses: To assess the correlation between cardiac and hepatic T2*MRI findings with the ...

hrp0082p3-d3-696 | Bone (2) | ESPE2014

A Korean Boy with Pseudohypoparathyrodism Type Ia Presenting with Congenital Megacolon and Spinal Stenosis: Identification of a Novel GNAS Gene Mutation

Lee J E , Lee S H , Cho S Y , Ki C S , Jin D K

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

hrp0089p3-p001 | Adrenals and HPA Axis P3 | ESPE2018

Congenital Adrenal Hyperplasia: A Patient’s Perspective, a Mother’s Story

Landa Allison

Statement of the Problem: Studies suggest that psychosocial factors – in addition to physical barriers – work to impair fertility and successful childbirth in women with Congenital Adrenal Hyperplasia. This includes a reluctance to consult medical professionals as to the scope of the problem and possible solutions. This was the case with Allison Landa, who was not even successfully diagnosed with CAH until the age of 30 due to parental negligence and the terror of di...