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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

Poster Category 2


hrp0084p2-507 | Pituitary | ESPE2015

Fanconi Anemia Endocrine Abnormalities – Case Report

Abreu Liliana , Martins Sofia , Marques Olinda

Background: Fanconi anemia (FA) is a rare, genetically and phenotypically heterogeneous, autosomal or x-linked recessive chromosome instability disorder characterized by multiple congenital anomalies, bone marrow failure, and increased susceptibility to specific malignancies. Other findings, including short stature, skin pigmentation, and endocrine abnormalities have been recognized, most notably GH deficiency (GHD), hypothyroidism, and hypogonadism.Case...

hrp0084p2-508 | Pituitary | ESPE2015

The IGSF1 Deficiency Syndrome: An Unusual Case

Aisenberg Javier , Ghanny Steven , Chartoff Amy , Zidell Aliza , Pedro Helio , Joustra Sjoerd , Losekoot Monique , Wit Jan

Background: IGSF1 deficiency has been recently found to be a novel cause of x-linked central hypothyroidism, macroorchidism and delayed puberty.Case presentation: We present a family, in which the proband was diagnosed with congenital central hypothyroidism by neonatal screening and treated accordingly. Further pituitary examination revealed an unmeasurable prolactin level, normal IGF1, normal cortisol and no abnormalities of the pituitary on MRI. The pa...

hrp0084p2-509 | Pituitary | ESPE2015

Survival, Hypothalamic Obesity, and Neuropsychological/Psychosocial Status after Childhood-Onset Craniopharyngioma: Newly Reported Long-Term Outcomes

Sterkenburg Anthe S , Hoffmann Anika , Gebhardt Ursel , Warmuth-Metz Monika , Daubenbuchel Anna M M , Muller Hermann L

Background: Quality of life and long-term prognosis are frequently, often severely impaired in craniopharyngioma (CP) patients.Objective and hypotheses: Knowledge of risk factors for long-term outcome is important for optimisation of treatment.Method: Overall survival (OS) and progression-free survival (PFS), BMI, neuropsychological status (EORTCQLQ-C30, MFI-20), and psychosocial status were analysed in 261 patients with childhood-...

hrp0084p2-510 | Pituitary | ESPE2015

Chronic Inappropriate Antidiuresis in Childhood: Experience with Tolvaptan

Gaudino Rossella , Piona Claudia , Morandi Grazia , Cavarzere Paolo , Brugnara Milena

Background: The syndrome of inappropriate antidiuresis (SIAD) is one of the most common causes of hyponatremia: it’s a disorder of sodium and water balance, characterized by urinary dilution impairment and hypotonic hyponatremia, in the absence of renal disease or any non-osmotic stimulus, able to induce antidiuretic hormone (ADH) release. SIAD can be manifestation of a wide range of diseases, including cancer, head trauma, hydrocephalus and epilepsy. Usually transient an...

hrp0084p2-511 | Pituitary | ESPE2015

Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome

Joustra Sjoerd , Roelfsema Ferdinand , Endert Eric , Ballieux Bart , van Trotsenburg Paul , Fliers Erik , Corssmit Noortje , Bernard Daniel , Oostdijk Wilma , Wit Jan Maarten , Pereira Alberto , Biermasz Nienke

Background: Loss-of-function of immunoglobulin superfamily, member 1 (IGSF1) causes an x-linked syndrome of central hypothyroidism, macroorchidism, delayed pubertal testosterone rise, variable prolactin deficiency, and variable partial growth hormone deficiency in childhood. The clinical features and gene expression pattern suggest a pivotal role for IGSF1 in the pituitary, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.<p class=...

hrp0084p2-512 | Pituitary | ESPE2015

Pituitary Function after Mild to Severe Traumatic Brain Injury in Children 2–18-Years-Old: A Prospective Study

Braun Karine , Briet Claire , Toussaint Patrick , Trifunovic Helene Bony , Boudailliez Bernard

Background: In recent years, traumatic brain injury (TBI) has been identified as a significant cause of pituitary dysfunction in children. Paediatric prospective studies are rare especially for mild TBI.Objective and hypotheses: The aim of this present study was to evaluate the frequency of hypopituitarism after mild, moderate and severe TBI in hospitalized children, and determining factors of this deficiency.Method: A prospective ...

hrp0084p2-513 | Pituitary | ESPE2015

A Novel Mutation within the AVP Gene in an 18-Year-Old Male Patient with Kallmann Syndrome and Combined Pituitary Hormone Deficiency

Choi Won Bok , Kim Soo Young , Yoon Lira , Kim Young Mi , Cho Min-Jung , Ki Chang-Seok , Cho Sung Yoon , Jin Dong-Kyu , Kwak Min Jung

Background: Kallmann syndrome is the most common form of hypogonadotropic hypogonadism and is associated with genes such as KAL1, KAL2, CHD7, NELF, PROK2, and PROKR2. Genetic factors in hypopituitarism are involved with the gene mutation of PROP1, POU1F1, HESX1, LHX3, LHX4, and PTX2. We found a novel mutation of the AVP gene in a Kallmann syndrome patient with hypopituitarism.Case presentation: The pa...

hrp0084p2-514 | Pituitary | ESPE2015

Hydrocephalus and Hypothalamic Involvement in Paediatric Patients with Craniopharyngioma or Cysts of Rathke’s Pouch: Impact on Long-term Prognosis

Daubenbuchel Anna M M , Hoffmann Anika , Gebhardt Ursel , Warmuth-Metz Monika , Sterkenburg Anthe S , Muller Hermann L

Background: Paediatric patients with sellar masses such as craniopharyngioma (CP) or cyst of Rathke’s pouch (CRP) frequently suffer disease- and treatment-related sequelae.Objective and hypotheses: We analysed the impact and prognostic relevance of initial hydrocephalus (HY) and hypothalamic involvement (HI) on long-term survival and functional capacity (FC) in children with CP or CRP.Method: Using retrospective analysis of pa...

hrp0084p2-515 | Pituitary | ESPE2015

Contrasting Central Diabetes Insipidus due to preproAVP Mutations: Earlier Onset of Symptoms in Recessive than in Dominant Forms

Bourdet Karine , Valette Sophie , Deladoey Johnny , Vliet Guy Van

Background: Central diabetes insipidus may result from mutations in the preproAVP gene, most often heterozygous and occurring de novo or inherited in an autosomal dominant mode; in these cases, intracellular accumulation of the misfolded product of the mutated allele slowly destroys the AVP-producing neurons, so that the onset of symptoms may be delayed for up to 28 years by which time the posterior pituitary hyperintense signal is no longer visible on magnetic resonance imagi...

hrp0084p2-516 | Pituitary | ESPE2015

Endocrine Disorders in Children with Optic Chiasm Glioma

Torralbo-Carmona Alicia , Dominguez-Begines Mar , Barchino-Munoz Laura , Garcia-Garcia Emilio

Background: Pituitary function in children with optic chiasm glioma may be impaired.Objective and hypotheses: We aim to describe the frequency of endocrine abnormalities at diagnosis of the tumor and over the follow-up period in a group of children with chiasmatic glioma and its relation with different variables.Method: Retrospective study using the records of patients under 14 years old followed for optic chiasm glioma. Sex, age a...

hrp0084p2-517 | Pituitary | ESPE2015

Be Aware of Congenital Panhypopituitarism in Children with a Family History of Polydactyly

Hovinga Idske Kremer , Giltay Jacques , van der Kamp Hetty

Background: Congenital panhypopituitarism is associated with a variety of gene mutations. Abnormalities in the Gli2 gene were only recently described to be associated with congenital panhypopituitarism (Franca et al. 2010). Gli2 is a gene that encodes a transcription factor downstream of the Sonic Hedgehog pathway – known to play an important role in morphogenesis during embryology.Objective and hypotheses: Although Gli2 mutations were described to ...

hrp0084p2-518 | Pituitary | ESPE2015

A Novel Single Nucleotide Variation Contributing to the Expression of Isolated Hypogonadotropic Hypogonadism

Khattab Ahmed , Zhou Cuiqi , New Maria , Melmed Shlomo

Background: The molecular genetics of isolated hypogonadotropic hypogonadism (IHH) has been a subject of interest and recent discoveries. Multiple genetic variants with x-linked and autosomal inheritance are involved in the regulation of the hypothalamic pituitary gonadal axis.Objective and hypotheses: We undertook an extensive genetic evaluation to elucidate a possible genetic aetiology in two brothers with clinical and biochemical evidence of IHH. We h...

hrp0084p2-519 | Pituitary | ESPE2015

Eating Behaviour, Weight Problems and Eating Disorders in 101 Long-Term Survivors of Childhood-Onset Craniopharyngioma

Hoffmann Anika , Sterkenburg Anthe S , Gebhardt Ursel , Muller Hermann L

Background: As a result of hypothalamic involvement and/or treatment-related hypothalamic damage, up to 75% of childhood craniopharyngioma patients develop hypothalamic obesity.outcome is important for optimization of treatment.Method: Eating behaviour was analysed in 101 survivors of childhood craniopharyngioma, recruited from 1980 to 2001 in the HIT-Endo multicentre study, and in 85 BMI-matched healthy controls using the Inventory for eating behavior a...

hrp0084p2-520 | Pituitary | ESPE2015

Two Novel LHX3 Mutations in Patients with Combined Pituitary Hormone Deficiency and Sensorineural Hearing Loss

Bin-Abbas Bassam , Ramzan Khushnooda , Allam Rabab , Al-Owain Mohammed , Imtiaz Faiqa

Background: Pituitary hormone deficiency combined type 3 (CPHD3; MIM# 221750) is an autosomal recessive combined pituitary hormone deficiency caused by mutations in LHX3, a LIM-homeodomain transcription factor gene which is necessary for the normal pituitary and motorneuron development.Aims: Clinical manifestations of CPHD3 are pituitary dwarfism and might be accompanied by rigid cervical spine leading to limited neck rotation or sensorineural deafness. ...