ESPE Abstracts

Background: A greater number of male (M) vs female (F) patients are diagnosed with GH deficiency (GHD). M have larger birth weight (BW), length and head circumference (HC) compared to F; these characteristics could contribute to subtle cephalo-pelvic disproportion and mild head trauma possibly contributing to idiopathic GHD (IGHD) and multiple pituitary hormone deficiencies (MPHD).Objective: To determine birth characteristics including mode of delivery a...

Background: Monocarboxylate transporter 8 (MCT8) is a specific transporter of triiodothyronine (T3). MCT8 gene mutations cause a rare X-linked disorder known as Allan–Herndon–Dudley syndrome, characterized by thyroid dysfunction (high T3, low T4, and normal/high TSH) and psychomotor retardation.Case report: A 4-year- and 9-month-old boy, who was already having L-T4 treatment fo...

Background: Autoimmune thyroid disease (AITD) is the most common thyroid disorder in the paediatric age range. However, the development of thyroid dysfunction in biochemically euthyroid children with positive TPOAbs and associated risk factors is unclear.Objective and hypotheses: To evaluate the evolution of children with positive TPOAbs and normal thyroid function and identify predictive factors for the development of thyroid dysfunction.<p class="a...

Background: Most comprehensive guidelines on tall stature suggest that extremely tall children (defined as height above +3 SDS) should be referred to specialized health care for comprehensive diagnostic work-up. However, currently the etiology of tall stature is poorly characterized and no systematic studies focusing on extreme tall stature exist.Methods: We identified all subjects with height above +3 SDS after the age ...

Background: Dual-specificity tyrosine phosphorylation-regulated kinase 1B (DYRK1B) is a nutrient-sensing protein that suppresses the RAS–RAF–MEK pathway and is known to have a role in glucose uptake and glycolysis. The expression of DYRK1B increases during adipogenic differentiation suggesting an important role in adipogenesis. Mutations in DYRK1B have been described in three Iranian families and five Caucasian patients w...

Loss of function mutations in SGPL1 (sphingosine-1-phosphate lyase) give rise to a multisystemic syndrome with predominating features of primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome. Retrospective analysis of our patient cohort and the wider literature also demonstrated primary gonadal insufficiency in a third of male patients with microphallus and bilateral cryptorchidism (all with concomitant adrenal disease and high mortality in infa...

Background: The incidence of Graves’ disease in patients aged <15 years is estimated at 0.9 per 100,000. Parental anxiety around definitive treatment, timing of this around schooling and clinician confidence in long-term medical treatment often results in prolonged medical management. This audit aimed to assess the rates of remission, timing of definitive treatment and long-term medical management in children managed for Graves’ at a UK tertiary...

The incidence of TIDM varies greatly between different countries and regions. In Navarre, located in the north of Spain, at the western end of the Pyrenees, there has been a clear increase in the incidence of TIDM, from 13,5 cases per 100000 in the decade 1990-2000 to 20,1 cases per 100000 between 2006-2011. We wonder if this upward trend has continued in recent years. Our hospital is a reference center for Pediatric Endocrinology in Navarre.Obje...

Background: Tall stature is a frequent concern in pediatric endocrine clinics. However, no representative reports addressing etiology and auxological diagnostic cues at specialized healthcare presentation currently exist. We report the etiology of extreme tall stature and describe auxological cues indicative of a growth disorder.Methods: We identified 145 subjects (girls/boys: 78/67) with extreme tall stature from our in...

Objective Recent studies suggest that boys are undergoing puberty at a younger age. Further, the number of idiopathic male central precocious puberty (CPP) cases are increasing over time. Only a few studies have evaluated the etiological factors in boys with CPP. We describe the etiology of CPP. Further, we define key auxological and clinical cues indicative of organic CPP (OCPP) and characterize the incidence of CPP.Methods&#x20...