hrp0082p1-d3-191 | Pituitary | ESPE2014

Phenotype Evaluation of Combined Pituitary Hormone Deficiency Caused By prop1 Gene Mutation in Comparison to Pituitary Deficiency Caused by Other Factors

Zygmunt-Gorska Agata , Starzyk Jerzy , Wojcik Malgorzata , Madetko-Talowska Ewa , Sucharski Piotr , Herman-Sucharska Izabela , Pietrzyk Jacek J

Background: Combine pituitary hormone deficiency (CPHD) may be caused by many factors. One – them is PROP1 gene mutation, that causes maldevelopment of GH, TSH, LH, FSH prolactin but not ACTH, producing cells (CPHD–PROP1).Objective and hypotheses: The details of possible differences between phenotypes of CPHD–PROP1 and CPHD of other reasons (CPHD–nonPROP1) are not clear to date. The aim of the study...

hrp0082p3-d1-623 | Adrenals & HP Axis | ESPE2014

Pseudohypoaldosteronism Type 1: Role of Urinary Steroid Profiling in Specific and Early Diagnosis: Lessons in Differential Diagnosis of PHA1 vs PHA2 (Renal Tract Anomaly)

Abbot V , Ghataore L , Pieterse D J , Chapman S , Kapoor R R , Taylor N F , Buchanan C R

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...

hrp0084p2-229 | Bone | ESPE2015

Comparison of the Response to Bisphosphonate Treatment between Acute Lymphoblastic Leukaemia and Osteogenesis Imperfecta Type I

Uday Suma , Kumaran Anitha , Ginige Nimasari , Sakka Sophia , Saraff Vrinda , Sahota J , Crabtree Nicola , Shaw Nick , Hogler Wolfgang

Background: Osteoporosis in children with osteogenesis imperfecta type 1 (OIT1) and acute lymphoblastic leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI.Objectives: To compare the response to BP therapy in children with ALL and OI.Methods: Retrospective review of children ...

hrp0084p2-250 | Diabetes | ESPE2015

Recombinant Human IGF1 Treatment in Patients with Insulin Receptor Mutations Resulting in Donohue Syndrome: A 10-Year Experience in a Tertiary Centre

Improda Nicola , Katugampola Harshini , Shah Pratik , Gordon Hannah , Amin Rakesh , Peters Catherine J , Semple Robert K , Dattani Mehul T

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Previous reports demonstrate a role for recombinant human IGF1 (rhIGF1), however optimal treatment strategy remains unclear.Case series: Four males with DS have been treated with bolus rhIGF1 (see table below). They had no IGF1 response on an IGF1 generation test. No long-term side effects of rhIGF1 were repor...

hrp0084p3-617 | Adrenals | ESPE2015

Conservative Treatment Allows Substantial Improvement of Neonatal Cushing Syndrome in McCune Albright Syndrome, a 2 Year Follow-up

van Nieuwaal Nancy HG , Houwen Roderick H J , van der Grinten Hedi L Claahsen , Stuart Annemarie A Verrijn

Background: McCune Albright syndrome (MAS) is defined by the classic triad of precocious puberty, fibrous dysplasia of bone and café au lait skin pigmentation. However, the clinical spectrum is often more variable due to mosaic distribution of the postzygotic GNAS-mutation. Hypercortisolism occurs in a minority (5%) of patients. It is most frequently caused by nodular adrenal hyperplasia and can be life-threatening. Decisions on whether clinical management should be conse...

hrp0084p3-675 | Bone | ESPE2015

Pseudohypoparathyroidism Type 1b, a Rare Diagnosis in Adolescents

Vlachopapadopoulou Elpida-Athina , Dikaiakou Eirini , Karavanaki Kyriaki , Anagnostou Elli , Tsitoura Maria-Eleni , Tsolia Mariza , Mackay Deborah J G , Michalacos Stephanos

Background: Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to parathyroid hormone (PTH), and possibly TSH, with or without features of Albright’s hereditary osteodystrophy.Case presentation: A 14-year-old boy presented with fatigue and spontaneous carpal spasms in association with a febrile viral infection. Past medical history was significant for an episode of asymptomatic hypocalcemia treated with...

hrp0084p3-942 | GH & IGF | ESPE2015

Long-Term Insulin Sensitivity and β-Cell Function in Short Children Born Small for Gestational Age Treated with GH and GnRHa: Results of a Randomised, Dose-response Trial

van der Steen Manouk , Lem Annemieke J , van der Kaay Danielle C M , Hokken-Koelega Anita C S

Background: Pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (2 years GnRHa) and even more so with 2 mg/m2 per day (~0.067 mg/kg per day). Concerns haven been raised about the effects of GH and GnRHa on insulin sensitivity on the long-term.Objective and hypotheses: To ...

hrp0084p3-1007 | Growth | ESPE2015

Depth and Timing of Hypoglycaemia Achieved During Insulin Tolerance Test in Children

Wong S C , Boroujerdi M , McNeilly J , Morris W , Carson C , Mason A , Shaikh G , Ahmed S F

Background: Achieving adequate hypoglycaemia during the insulin tolerance test (ITT) is important but excessive hypoglycaemia is undesirable. We aim to evaluate factor affecting insulin sensitivity and hypoglycaemia during ITT.Patients and method: 106 children (76 males) who had an ITT (Actrapid 0.1 units/kg) performed between 2009–2013 for evaluation of short stature, poor growth or re-assessment after completion of growth following rhGH therapy. P...

hrp0084p3-1040 | Growth | ESPE2015

Psychomotor Development in Children Born Small for Gestational Age During Early Infancy

Puga Beatriz , Olivan Maria J , Galve Zenaida , Rite Segundo , de Arriba Antonio , Ferrer Marta , Labarta Jose Ignacio , Ferrandez Angel

Background: Neurocognitive retardation is one of the most important consequences that small for gestational age (SGA) children may suffer although conflicting results have been published.Objective and hypotheses: The aim of this study was to study psychomotor development (PD) in children born SGA during the first two years of life in order to identify children at risk as early as possible.Method: 108 cases borh SGA have been studie...

hrp0094p1-61 | Diabetes B | ESPE2021

Timing of Hypoglycaemia in Patients with Hyperinsulinism (HI): Extension of the Digital Phenotype

Worth Chris , Harper Simon , Salomon-Estebanez Maria , O’Shea Elaine , Nutter Paul , Dunne Mark J , Banerjee Indraneel ,

Background: Hyperinsulinism (HI) due to excess and dysregulated insulin secretion is the most common cause of severe and recurrent hypoglycaemia in childhood. High cerebral glucose utilisation in the early hours results in high risk of hypoglycaemia for people with diabetes and carries a significant risk of brain injury. Prevention of hypoglycaemia is the cornerstone of management for HI but the risk of hypoglycaemia at night or indeed the timing of hypoglycae...