hrp0094fc6.2 | Bone and Mineral Metabolism | ESPE2021

Long-term effectiveness of PTH(1-34) infusion therapy for autosomal dominant hypocalcaemia type 1.

Sastre Ana , Valentino Kevin , Hannan Fadil M , Lines Kate E , Gluck Anna K , Stevenson Mark , Ryalls Michael , Gorrigan Rebecca , Pullen Debbie , Buck Jackie , Sankar Sailesh , Allgrove Jeremy , Thakker Rajesh V , Gevers Evelien F ,

Background: Patients with autosomal dominant hypocalcemia type 1 (ADH1), due to germline gain-of-function calcium-sensing receptor (CASR) mutations, have hypocalcemia and seizures, hyperphosphatemia, hypercalciuria and inappropriately low parathyroid hormone (PTH) concentrations. Treatment for ADH1 comprises calcium and vitamin D analogs, however, their use predisposes to nephrocalcinosis and renal impairment. In contrast, recombinant human PTH(1-34) may incre...

hrp0094wg8.3 | ESPE Working Group on Turner Syndrome Symposium | ESPE2021

Blood Pressure in Turner Syndrome - a practical approach

Matthews Debbie ,

Females with Turner syndrome (TS) have a reduced life expectancy of about 13 years and a substantial excess mortality; about 50% of this is the result of cardiovascular pathology. Hypertension affects 20-60% of females with TS and is the single most modifiable risk factor for cardiovascular disease. However, hypertension in TS is both under-diagnosed and under-treated. The presentation details a practical approach to monitoring blood pressure and managing hypertension in TS. T...

hrp0092p2-62 | Diabetes and Insulin | ESPE2019

The Effect of Carbohydrate Recognition and Counting Ability on Glycemic Control in Pediatric Patients with Type 1 Diabetes

Minutti Carla , Mullen Mary , Bindiganavle Aparna , Parish Anthony

Many factors contribute to the glycemic control in pediatric patients with type 1 diabetes mellitus (T1DM). The purpose of this IRB approved study was to determine if there was a significant correlation between the ability of pediatric patients with TiDM to accurately recognize and count carbohydrates and their hemoglobin A1C (HgbA1C). T1DM patients aged 12-17 years completed the Koontz PedCarbQuiz (PCQ) . Demographic and clinical data was extracted from the electronic health ...

hrp0094p1-4 | Adrenal A | ESPE2021

Depression among insured children and young adults in the United States with congenital adrenal hyperplasia

Harasymiw Lauren , Grosse Scott , Cullen Kathryn , Bitsko Rebecca , Perou Ruth , Sarafoglou Kyriakie ,

Background: Individuals with congenital adrenal hyperplasia (CAH), a form of adrenal insufficiency, are exposed to daily non-physiologic, non-circadian cortisol profiles due to both the disease and therapeutic limitations. Dysfunction in the hypothalamic-pituitary-adrenal axis is strongly associated with depressive disorders. However, little is known about the prevalence of depression among children and young adults with CAH. We investigated the prevalence of ...

hrp0089p3-p322 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

New Method of Surgical Correction of Female Hypospadias in Girls with Disorders of Sex Development and Stenosis of Artificial Introitus

Anikief Alexander , Brovin Dmitriy , Volodko Elena , Okulov Alexey

Introduction: Female hypospadias (FH) is one of disorders of sex development signs (DSD). Short and wide urethra that opens into the vagina predisposes to occurrence of recurrent infection of urinary tract, vaginal voiding and postoperative narrowing of artificial vaginal introitus (AVI).Aim: Improve the results of correction FH with stenosis AVI using reintroitoplasty separating the urinary and genital tracts in patients with DSD....

hrp0095rfc6.1 | Sex Development and Gonads | ESPE2022

Sex-specific ranges and ratios for anogenital distance among Thai full-term newborns

Numsriskulrat Nattakarn , Srilanchakon Khomsak , Pronprechatham Chaiyat , Pornkunwilai Sopon , Supornsilchai Vichit

Introduction: Anogenital distance (AGD) is a useful marker of prenatal androgen exposure and a tool for assessment of differences of sex development. Normative data on AGD ranges for local references should be established as standards for comparison in clinical practice, but there is a paucity of data among newborns in Thailand.Aim: To provide the sex-specific ranges for AGD in Thai full-term newborns.<p class="abste...

hrp0086p2-p496 | Fat Metabolism and Obesity P2 | ESPE2016

Intensive Exercise Intervention for Long-term Adolescent and Young Adult Survivors of Oncology-Related Cranial Insult: A Pilot Study

Rath Shoshana , Long Treya M , Bear Natasha , Graham Kerrie , Atkinson Helen , Naylor Lousie , Cole Catherine , Gottardo Nick , Choong Catherine

Background: Survivors of childhood cancer are at increased risk of cardiovascular morbidity and mortality in later life. Although the brain is known to be involved in control of metabolic functions including appetite regulation and energy expenditure (1), little data are available relating to the risk of metabolic dysfunction secondary to cerebral injury. Several studies have attempted to investigate the impact of exercise on physical and psychosocial parameters in survivors o...