Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

hrp0082p1-d3-185 | Pituitary | ESPE2014

Early-Onset Central Diabetes Insipidus is Associated with de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations

Allegri Anna Elsa Maria , Iorgi Natascia Di , Perrotta Silverio , Ragione Fulvio Della , Scianguetta Saverio , Borriello Adriana , Ferraro Marcella , Santoro Claudia , Calcagno Annalisa , Napoli Flavia , Giaccardi Marta , Cappa Marco , Salerno Maria Carolina , Maghnie Mohamad

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

hrp0082p1-d3-186 | Pituitary | ESPE2014

A Boy with Septo-Optic Dysplasia Identified a Mutation in WDR11

Shima Hirohito , Izumi Yoko , Umeki Ikumi , Kaga Akimune , Kamimura Miki , Saito-Hakoda Akiko , Kanno Junko , Fukami Maki , Fujiwara Ikuma

Background: Septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia, anterior midline abnormality and pituitary hormone deficiency. Mutations of several genes are known to cause SOD related condition, such as HESX1, SOX2, SOX3, and OTX2, but mutations of WDR11 has not been reported in SOD.Objective: Reporting the first SOD patient identified a mutation in WDR11.<p cl...

hrp0082p1-d3-187 | Pituitary | ESPE2014

Quality of Life and Psychosexual Function in Young Adults with Childhood-Onset Hypopituitarism

Kao Kung-Ting , Stargatt Robyn , Zacharin Margaret

Introduction: Hypopituitarism has been reported to be associated with lower quality of life (QoL), marital rates, and sex-life satisfaction in adulthood in patients with GH deficiency. Very few studies have examined this in those with childhood-onset multiple pituitary hormone deficiency (COMPHD).Aims: To evaluate QoL in adults with COMPHD.Subjects and methods: All COMPHD patients aged (≥18 years were identified from medical ...

hrp0082p1-d3-188 | Pituitary | ESPE2014

Butyrate Stimulates GH Secretion From Rat Anterior Pituitary Cells Via the G-Protein-Coupled Receptors GPR41 and 43

Miletta Maria Consolata , Petkovic Vibor , Eble Andree , Ammann Roland , Fluck Christa E , Mullis Primus E

Background: Butyrate is a short-chain fatty acid closely related to the ketone body β-hydroxybutyrate (BHB) considered as the major source of energy during prolonged exercise. During fasting, when the liver switches to fatty acid oxidation, a rise in serum GH occurs concomitantly with the accumulation of BHB and short chain fatty acids (SCFA) acetate, propionate and butyrate. Interactions between GH, ketone body and SCFA during the metabolic adaptation to fasting are poor...

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...

hrp0082p1-d3-190 | Pituitary | ESPE2014

A Rare Cause of Diabetes Insipidus: Congenital Proprotein Convertase 1/3 Deficiency

Karaguzel Gulay , Cakir Murat , Akbulut Ulas , Janecke Andreas , Okten Aysenur

Background: Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with severe malabsorptive diarrhea and certain endocrine abnormalities.Objective and hypotheses: To date, only 13 subjects with PC1/3 deficiency have been reported, now we want to report a new patient who was diagnosed PC1/3 deficiency with novel PCSK1 mut...

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...

hrp0082p1-d3-192 | Pituitary | ESPE2014

Diencephalic Syndrome in Childhood Craniopharyngioma: Results of German Multicenter Studies on 485 Long-Term Survivors of Childhood Craniopharyngioma

Hoffmann Anika , Gebhardt Ursel , Sterkenburg Anthe , Warmuth-Metz Monika , Muller Hermann L

Background: Childhood craniopharyngiomas are known to be associated with an increased risk of excessive weight gain and hypothalamic obesity. Atypical clinical manifestations include the development of a diencephalic syndrome (DS) with a failure to thrive or weight loss.Objective and hypotheses: In a retrospective study we analyzed 21 of 485 childhood craniopharyngioma patients (4.3%) who presented with a low weight (<−2 BMI SDS) at time of dia...

hrp0082p1-d3-193 | Pituitary | ESPE2014

A Novel Mutation of OTX2 Associated with Neonatally Diagnosed Combined Pituitary Hormone Deficiency and Bilateral Microphthalmia

Shimada Aya , Takagi Masaki , Hasegawa Yukihiro

Background: Orthodenticlehomeobox 2 (OTX2) is a transcription factor implicated in pituitary, ocular, and craniofacial development. To date, more than 30 mutations in OTX2 have been described in congenital hypopituitarism (CH) with or without ocular malformation. The pituitary phenotype varied from isolated GH deficiency (IGHD) to Combined Pituitary Hormone Deficiency (CPHD). However, CPHD including ACTH deficiency from neonatal period was rare among the previous reports. Here...

hrp0082p1-d3-194 | Pituitary | ESPE2014

Type 3 Congenital Multiple Pituitary Hormone Deficiency

Radillo Lucia , Fabretto Antonella , Saveanu Alexandru , Demarini Sergio , Tonini Giorgio , Faleschini Elena , Tornese Gianluca , Chiara Pellegrin Maria

Background: G, male, was born at 39 GW by emergency CS from non-consanguineous parents. Prenatal US showed growth at lower limits of normal from 22 GW, short limbs and polyhydramnios. Amniocentesis karyotype was 46,XY. At birth weight and length were <3rd percentile, head circumference was between 10 and 25th percentile. At physical examination: short limbs, short neck, cryptorchidism, and microphallus. Early the baby presented mild respiratory distress and a severe episod...

hrp0082p1-d3-195 | Pituitary | ESPE2014

Childhood Craniopharyngioma: Changes of Treatment Strategies in Multinational Trials During the Last 12 Years

Hoffmann Anika , Warmuth-Metz Monika , Gebhardt Ursel , Pietsch Torsten , Pohl Fabian , Kortmann Rolf-Dieter , Calaminus Gabriele , Muller Hermann L

Background: Despite high survival rates in childhood craniopharyngioma, prognosis is frequently impaired due to sequelae. Radical surgery was the treatment of choice for several decades. However, even at experienced surgical facilities radical surgery can result in hypothalamic disorders such as severe obesity.Objective and hypotheses: We analyzed, whether treatment strategies for childhood craniopharyngioma patients recruited in German studies (KRANIOPH...

hrp0082p1-d3-196 | Pituitary | ESPE2014

Rathke Cleft Cysts and Endocrine Dysfunction in Children

Dupre Marie , Brioude Frederic , Berard Laurence , Esteva Blandine , Houang Muriel

Background: Rathke’s cleft cysts (RCC) are benign lesions of the pituitary gland, remnants of Rathke’s pouch. RCC have rarely been reported in children and adolescents and are usually known as asymptomatic but some cases may be associated with hormonal disturbances.Objective and hypotheses: The aim of the study was to assess the characteristics and frequency of endocrine disturbances in children with RCC.Method: We retros...

hrp0082p1-d3-197 | Pituitary | ESPE2014

Congenital Nasal Pyriform Aperture Stenosis and Pituitary Abnormalities: Case Series of 20 Patients and a Management Guideline for Early Identification of Pituitary Insufficiency

Chen Suet Ching , McDevitt Helen , Clement W Andrew , Wynne David M , Mason Avril , Donaldson Malcolm , Ahmed S Faisal , Shaikh M Guftar

Introduction: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with holoprosencephaly, of which solitary median maxillary central incisor (SMMCI) is the least severe form. Studies have described pituitary abnormalities in up to 40%. We aimed to determine the use of baseline endocrine investigations and MRI brain in assessing endocrine dysfunction.Method: Retrospective casenote ...

hrp0082p1-d3-198 | Pituitary | ESPE2014

Spatial and Temporal Expression of Immunoglobulin Superfamily Member 1 in the Rat

Joustra Sjoerd , Meijer Onno , Oostdijk Wilma , Heinen Charlotte , Mol Isabel , Carreno Gabriela , Bernard Daniel , Biermasz Nienk , van Pelt Ans , Hamer Geert , Wit Jan Maarten , Wagenaar Gerry

Background: Loss-of-function of immunoglobulin superfamily member 1 (IGSF1) results in an X-linked syndrome of central hypothyroidism and macroorchidism, variable prolactin deficiency, GH deficiency, increased fat percentage, and delayed puberty testosterone rise despite normal timing of testicular growth.Methods: We investigated the spatial and temporal expression of IGSF1 at the protein and mRNA levels in fetal, neonatal, and adult Wistar rats, using i...