hrp0084p3-1250 | Programming & Misc. | ESPE2015

A Survival Analysis Approach to Assess the Association between Maternal Prepregnancy Overweight and Childhood Overweight: Results of the Ulm Birth Cohort Study (UBCS)

Brandt Stephanie , Brenner Hermann , Genuneit Jon , Rothenbacher Dietrich , Wabitsch Martin

Background: It has been suggested that maternal prepregnancy overweight has an effect on childhood overweight.Objective: We aimed to use a survival analysis approach to investigate the association between maternal prepregnancy overweight and childhood overweight in the prospective Ulm Birth Cohort Study (UBCS).Design: At baseline n=1086 mothers and their newborns agreed to participate in the UBCS. Weight and height values ...

hrp0094fc2.4 | Fat, Metabolism and Obesity | ESPE2021

PTEN germline mutations lead to adipose tissue overgrowth mediated via FOXO1 and SREBP1.

Kirstein Anna , Kehr Stephanie , Nebe Michele , Kiess Wieland , Garten Antje ,

Background and Aim: Pediatric patients with germline mutations in the tumor suppressor gene PTEN (PTEN hamartoma tumor syndrome, PHTS) frequently develop lipomas. PTEN antagonizes phosphoinositide 3-kinase (PI3K) signaling, which can induce adipogenesis upon activation through insulin. The PI3K downstream target AKT can deactivate FOXO1 via phosphorylation, initiating the expression of the lipogenesis activating transcription factor SREBP1. To study t...

hrp0094p1-79 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Concurrent hyperinsulinism and hypopituitarism in a 22 month old child due to a novel FOXA2 mutation

Kilci Fatih , Hurmuzlu Kozler Selen , Jones Jeremy , Ceylaner Serdar , Mine Cizmecioğlu Jones Filiz ,

Introduction: Co-existence of congenital hypopituitarism and congenital hyperinsulinemia is extremely rare. We present a case of congenital hypopituitarism and hyperinsulinemic hypoglycemia with a novel FOXA2 mutation.Case: A 22-month-old girl was referred to pediatric endocrinology due to short stature. She was the first child of healthy, non-consanguineous parents with no relevant family history. Delivery was by cesarean secti...

hrp0094p2-474 | Thyroid | ESPE2021

Recurrent fractures in a child with Graves' disease

Kilci Fatih , Jones Jeremy , Çizmecioğlu Jones Filiz Mine

Introduction: Graves' disease is the most common paediatric cause of hyperthyroidism. Although hyperthyroidism has been reported to cause a decrease in bone mineral density (BMD), its association with recurrent bone fractures is extremely rare.Case: A 10-year-old male patient, who had a pre-existing 7-year diagnosis of autism spectrum disorder, presented to emergency with right leg pain that started after collision with an armchair. On initial exami...

hrp0094p2-165 | Diabetes and insulin | ESPE2021

Co-existence of new onset diabetic ketoacidosis with severe hypertriglyceridemia in a 9 year old girl.

Kilci Fatih , Kozler Selen Hurmuzlu , Jones Jeremy , Cizmecioğlu Jones Filiz Mine ,

Introduction: Insulin regulates the activity of lipoprotein lipase, the enzyme responsible for triglyceride metabolism. Although mild hypertriglyceridemia is seen in diabetic patients, severe hypertriglyceridemia (>1000 mg/dl) is extremely rare in the pediatric population. We present a case of co-existence of new onset diabetic ketoacidosis (DKA) with severe hypertriglyceridemia, together with therapeutic outcome.Case: A 9-year-old, ...

hrp0092p1-35 | Diabetes and Insulin | ESPE2019

The Impact of CGM Availability: Real World Data From a Population Based Clinic

Sanderson Elaine , Smith Grant , Abraham Mary , Jones Timothy , Davis Elizabeth

Real-world studies reporting the impact of continuous glucose monitoring (CGM) in children with Type 1 diabetes (T1D) are limited. In April 2017 CGM became fully subsidised in Australia for children with T1D <21yrs. We report the impact of this in a large population based sample of paediatric diabetes (n=1093). Almost all (99%) children (age < 18yr) with diabetes in Western Australia attend a single paediatric diabetes centre.Pri...

hrp0086p1-p892 | Thyroid P1 | ESPE2016

Transient TSH Elevation in Infants Referred on Newborn Screening – Features, Prevalence and Trends

Ouarezki Yasmine , Jones Jeremy , Fitch Moira , Shaikh Guftar , Donaldson Malcolm

Background: Up to 20% of infants referred on newborn congenital hypothyroidism (CH) screening are subsequently shown to have transient TSH elevation rather than permanent CH. Correct identification of such cases is important to avoid prolonged treatment with thyroxine and unnecessary clinic attendance.Objective: To determine the prevalence, trends and profile of infants with transient TSH elevation referred between August 1979 and December 2015 by the Sc...

hrp0082p1-d3-189 | Pituitary | ESPE2014

An Unusual Case of Hereditary Nephrogenic Diabetes Insipidus Affecting Mother and Daughter

Giri Dinesh , Jones Caroline , Ellis Ian , Ramakrishnan Renuka

Background: Hereditary Nephrogenic Diabetes Insipidus (HNDI) is an uncommon disorder due to a resistance to anti diuretic hormone (ADH) leading to a reduced urinary concentrating ability. The X-linked form is fully expressed in hemizygous male patients, but diabetes insipidus may also present in heterozygous females where it must be distinguished from autosomal and other secondary causes.Objective and hypotheses: We report a mother and daughter with HNDI...

hrp0082p2-d3-510 | Perinatal and Neonatal Endocrinology | ESPE2014

Neonates with Acute Kidney Injury Continue to be at Risk of Iatrogenic Iodine Toxicity and Hypothyroidism with Attendant Risk to the Developing Brain

Frerichs Carley , Holt Richard , Morgan Henry , Jones Caroline , Didi Mohammed

Background: There are published recommendations for neonates to avoid exposure to iodine. Iodine is trapped by the thyroid gland from the blood stream and used for the synthesis of thyroid hormones. Any excess is excreted almost entirely in the urine. Acute kidney injury, especially anuria places infants at risk of toxicity when exposed to iodine and paradoxical hypothyroidism can occur (Wolff–Chaikoff effect). Hypothyroidism of sufficient severity to seriously put the br...

hrp0098p1-168 | Growth and Syndromes 2 | ESPE2024

Pubertal induction amongst girls with Turner Syndrome: oral vs patch oestrogen over the last 16 years.

Lloyd-Jones Eleanor , Abdullahi Elechi Hassan , Sachdev Pooja , Law James

Background: Pubertal induction with incremental doses of oestrogen replacement is an important component of care offered to hypogonadal patients with Turner Syndrome (TS). Low dose oral ethinylestradiol (EE) has been extensively used in the UK but natural 17-β oestradiol (more physiological, cheaper and easily monitored in blood) is becoming increasingly popular. We undertook this updated review, following on from previous work, to compare the efficacy an...