hrp0082p1-d1-140 | Growth | ESPE2014

Severe Short Stature and GH Insensitivity Due to a De Novo Heterozygous STAT5B Missense Mutation

Klammt Jurgen , Neumann David , Andrew Shayne F , Drahosova Marcela , Stobbe Heike , Buckham Kyle , Rosenfeld Ron G , Pfaffle Roland , Hwa Vivian

Background: GH insensitivity is caused by disturbances of GH receptor function or inability to transduce the hormone signal. Affected children are severely growth retarded and may also present immune complications when the transducer STAT5B is defective. Only autosomal-recessive STAT5B mutations have been described to date.Clinical case: Two male 14.5 year monozygotic twins presented with heights of 131.5 cm (−5.3 SDS). Bone age of the ind...

hrp0082p1-d1-147 | Growth | ESPE2014

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

Minari R , Vottero A , Azzolini S , Barbaro D , Bindi G , Bozzola M , Burrai C , Cardinale G M , Cioffi D , Cisternino M , Coccioli M S , Delvecchio M , Fabbrizi E , Ferrari M , Gallarotti F , Gallo F , Ghizzoni L , Maggio M C , Mainetti B , Montinaro R , Municchi G , Panariello A , Parpagnoli M , Perrone L , Petraroli M , Radetti G , Radicioni A F , Rossodivita A , Salerno MC , Savasta S , Seminara S , Tafi L , Tomat M , Tummolo A , Wasniewska M , Iughetti L , Bernasconi S

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...

hrp0082p1-d1-235 | Thyroid | ESPE2014

A Nonsense Thyrotropin Receptor Gene Mutation (R609X) is Associated with Congenital Hypothyroidism and Heart Defects*

Cangul Hakan , Bas Veysel Nijat , Saglam Yaman , Kendall Michaela , Barrett Timothy G , Maher Eamonn R , Aycan Zehra

Background: Congenital hypothyroidism, one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns.Objective and hypotheses: Congenital hypothyroidism is most often caused by defects in thyroid development leading to thyroid dysgenesis. TSH receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with congenital hypothyroidism. In t...

hrp0082lbp-d3-1002 | (1) | ESPE2014

Pseudoexon Activation in Nicotinamide Nucleotide Transhydrogenase in Two Siblings with Familial Glucocorticoid Deficiency

Chan Li , Novoselova Tatiana , Rath Shoshana , Carpenter Karen , Atkinson H , Dickinson Jan , Pachter Nick , Price G , Choong Cathy , Metherell Lou

Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...

hrp0084p2-168 | Adrenals | ESPE2015

The Natural Mutant Receptor hGRαT556I Causes Primary Generalised Glucocorticoid Resistance Through Decreased Affinity for the Ligand and Impaired Interaction with the GRIP1 Coactivator

Nicolaides Nicolas C , Skyrla Eirini , Vlachakis Dimitrios , Psarra Anna-Maria G , Sertedaki Amalia , Kossida Sophia , Charmandari Evangelia

Background: Primary generalised glucocorticoid resistance (PGGR) is a rare condition characterised by tissue insensitivity to glucocorticoids owing to inactivating mutations of the hGR gene. A new case of PGGR was reported in a patient with an adrenal incidentaloma harboring a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 of the receptor.Objec...

hrp0084p2-526 | Puberty | ESPE2015

Serum AMH Levels are Lower in Healthy Boys Who Develop Pubertal Gynaecomastia

Mieritz Mikkel G , Hagen Casper P , Almstrup Kristian , Petersen Jorgen H , Raket Lars L , Sommer Stefan H , Juul Anders

Background: Pubertal gynaecomastia is thought to be a clinical sign of an oestrogen-androgen imbalance, affecting up to 60% of boys. In most cases no underlying endocrinopathy can be identified. In boys, Anti-müllerian hormone (AMH) is produced by immature Sertoli cells and circulating level decreases as testosterone increases during pubertal maturation. In a previous cross sectional study we found significant lower levels of AMH in boys with pubertal gynaecomastia (Mieri...

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...

hrp0084p3-834 | Fat | ESPE2015

Liver Steatosis in Obese Children Courses with Enhanced Insulin Resistance and Dyslipidaemia, Which are Influenced by Gender, Puberty, Race and Body Fat Distribution

Martos-Moreno Gabriel A , Martinez-Villanueva Julian , Gonzalez-Leal Rocio , Sirvent Sara , Minguez Arturo , Martinez Guillermo , Hawkins Federico G , Argente Jesus

Background: Liver steatosis (LS) is diagnosed in obesity at very early ages, not exclusively related to overweight severity.Objective and hypotheses: To investigate the features of patients diagnosed with obesity associated LS (ultrasonography).Method: We retrospectively studied 88 obese (BMI>+2 SDS) children with LS (LS-OB) and 88 age, gender, race and puberty matched obese children without LS (no-LS-OB). BMI-SDS, body composi...

hrp0084p3-938 | GH &amp; IGF | ESPE2015

An Open-Label Phase 2 Dose-Finding Study Comparing Three Different Doses of Weekly TV-1106 and Daily Recombinant Human GH (Genotropin®) in Treatment-Naive, Pre-Pubertal, GH-Deficient Children

Rosenfeld Ron G , Wit Jan M , Malievsky Oleg , Bolshova Elena , Brown Kurt , Sakov Anat , Anscheutz Gaya , Bassan Merav , Butler Kathleen

Background: TV-1106 (Teva Pharmaceuticals) is a genetically fused human GH and human serum albumin, in development for treatment of GH deficiency (GHD). TV-1106 has an extended duration of action compared to daily GH treatment and thus it is believed that treatment with TV-1106 can reduce the frequency of injections and improve compliance and quality of life for those requiring growth hormone replacement therapy. The efficacy and safety data from adult studies with TV-1106 sup...

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...