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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 3


hrp0084p3-1099 | Pituitary | ESPE2015

Isolated GH Deficiency (IGHD) Associated with 7q11.23 Duplication Syndrome: a Case Report

Aroyo Ani , Stoeva Iva , Stancheva Gergana , Avdshieva Daniela , Kaneva Radka

Background: Congenital pituitary hormone deficiency is etiologically heterogeneous and occurs in 1:4000 live births. Of those, isolated GH deficiency (IGHD) is the most common, followed by combined pituitary hormone deficiency with or without extrapituitary anomalies.Objective and hypotheses: Description of a patient with IGHD, associated with multiple additional organ anomalies.Method: Case report, Sequencing of HESX1, SOX2</e...

hrp0084p3-1100 | Pituitary | ESPE2015

Cushing Disease in a Patient with Beckwith–Wiedemann: an Unusual Association

Brioude Frederic , Nicolas Carole , Netchine Irene , Marey Isabelle , Le Bouc Yves , Touraine Philippe

Background: Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with an increased risk of embryonic tumors during early childhood. About 80% of patients with BWS show a molecular defect in the 11p15 imprinted region. Loss of methylation at the imprinting control region 2 (ICR2) is the most frequent defect which leads to a loss of expression of the CDKN1C gene, increasing cell proliferation. These epigenetic defects occur mostly as a mosaic event.<p cl...

hrp0084p3-1101 | Pituitary | ESPE2015

Baseline Characteristics, GH Response, and Long term Evolution in 67 Patients with Pituitary Stalk Interruption According to the Initial Presentation

Bar Celine , Zadro Charline , Diene Gwenaelle , Oliver Isabelle , Pienkowski Catherine , Jouret Beatrice , Audrey Cartault , Sevely Annick , Tauber Maithe , Edouard Thomas

Background: Pituitary stalk interruption syndrome (PSIS) is a frequent cause of congenital hypopituitarism. Patients are initially referred for the evaluation of hypoglycemia during the neonatal period or growth retardation during infancy or childhood. PSIS are either associated with extra-pituitary malformations (EPM+) or isolated (EPM−).Objective and hypotheses: To compare baseline characteristics, GH response, and long term evolution in patients...

hrp0084p3-1102 | Pituitary | ESPE2015

Clinical Characteristics of Children with Congenital Combined GH Deficiency without Associated Syndrome in Belgium

Zeevaert Renate , Verlinde Franciska , Thomas Muriel , De Zegher Francis , Cools Martine , Heinrichs Claudine , Beauloye Veronique , France Annick , Lebrethon Marie-Christine , Massa Guy

Background: Despite the fact that pituitary stalk interruption syndrome (PSIS) is a frequent finding in children with combined GH deficiency (CGHD), clinical data are still limited and the growth response to GH treatment has not been evaluated in comparison with CGDH with a normal stalk.Objective and hypotheses: To report the clinical and hormonal findings and evaluate the short term growth response to GH in Belgian children with congenital non-syndromat...

hrp0084p3-1103 | Pituitary | ESPE2015

Pitfalls in Reporting of Paediatric Pituitary Scans

Hammouche Dalia , Ebita-Gama Aufrey , Puthi Vijith

Objective: MRI is the modality of choice to evaluate morphology of hypothalamic pituitary axis (HPA) and associated endocrinopathies. In the paediatric population it presents a diagnostic challenge because of small size and varied disease processes. We undertook a retrospective study to determine the pitfalls in reporting of pituitary imaging.Methods: Evaluation of pituitary MRI scans in 18 patients. We sought a second opinion from a paediatric neuro-rad...

hrp0084p3-1104 | Pituitary | ESPE2015

Long term Follow-up of a Child Treated with CyberKnife Radiosurgery for ACTH-secreting Pituitary Adenoma after Bilateral Adrenalectomy

Aversa Tommaso , Wasniewska Malgorzata , Francesca Messina Maria , Calafiore Mariarosa , De Luca Filippo

Background: First line treatment for an ACTH-secreting pituitary adenoma is transsphenoidal resection (TSR) of the tumor. Treatment options for patients with recurrent or persistent disease after surgery include another TSR, medical management, bilateral adrenalectomy, radiosurgery, or a combination of these. Radiosurgery represents a potentially curative treatment option for patients with recurrent or persistent disease.Case presentation: A boy was diag...

hrp0084p3-1105 | Pituitary | ESPE2015

Off-label Use of Vaptans in Children with Severe Symptomatic Hyponatremia due to SIADH

Tuli Gerdi , Tessaris Daniele , Di Taranto Serena , Giorgis Alberto , Einaudi Silvia , Matarazzo Patrizia

Background: Vaptans, vasopressin receptor 2 antagonist, are used in adults to treat hyponatremia associated with congestive heart failure, cirrhosis, and the syndrome of inappropriate antidiuretic hormone (SIADH). To date, in paediatric patients with SIADH there are few data about use of vaptans, still considered off-label.Case presentation 1: A 9-yo female with surgically treated suprasellar astrocitoma developed chronic hyponatremia (121–128 mmol/...

hrp0084p3-1106 | Pituitary | ESPE2015

Acquired Long QT Syndrome in a 14-year-old Boy with Panhypopituitarism

Kim Yoo-Mi , Seo Jung-Ho , Cheon Chong Kun , Yim Young-Tak , Kim Su Young

Background: Acquired QT prolongation can be caused by electrolyte abnormality, myocarditis, cerebrovascular disease, drug intoxication and hormonal disorders such as hypopituitarism, hypothyroidism, and adrenal insufficiency.Case presentation: We describe a 14-year-old boy with hypopituitarism after trans-sphenoidal surgery (TSS) due to suprasellar mass who manifested bradycardia and QT prolongation on electrocardiogram. This subject complained of blurre...

hrp0084p3-1107 | Pituitary | ESPE2015

Between 3 to 4 Years after Severe Traumatism Brain Injury 22% at Least of Children and Adolescents do have Persistent Pituitary Dysfunction

Dassa Yamina , Personnier Claire , Crosnier Helene , Chevignard Mathilde , Bourgeois Marie , Viaud Magali , Polak Michel

Background: Traumatic brain injury (TBI) is common in childhood but long-term endocrine consequences are yet to be documented by prospective data.Objective and hypotheses: We have previously demonstrated in prospective study that, 1 year after severe accidental TBI (ATBI) or inflicted TBI (ITBI), children and adolescents may present pituitary and growth hormone (GH) dysfunction. We present here the follow-up of this population to determine whether or not...

hrp0084p3-1108 | Pituitary | ESPE2015

Causes and Consequences of Thickened Pituitary Stalk Found by MRI in Children and Adolescents with Central Diabetes Insipidus

Martinez-Villanueva Julian , Corredor-Andres Beatriz , Munoz-Calvo Maria Teresa , Lopez-Pino Miguel Angel , Lagana Claudio , Campdera Mariana , Pozo-Roman Jesus , Argente Jesus

Background: Magnetic resonance imaging (MRI) of the hypothalamic-pituitary area is extremely useful in the investigation of patients with central diabetes insipidus (CDI) due to infiltrative processes.Objective: We aimed to associate pituitary stalk thickness with the etiology of CDI and hormone deficiencies.Method: A retrospective single-center study of 15 patients (four boys and 11 girls) with CDI was performed and clinical-epide...

hrp0084p3-1109 | Pituitary | ESPE2015

Acute Phase Proteins and Endocrine Dysfunction after Traumatic Brain Injury in Childhood

Verigaki Olga , Papassotiriou Ioannis , Prodromou Neofytos , Sfakianos George , Chrousos George , Kanaka-Gantenbein Christina

Background: Endocrine impairments, such as diabetes insipidus (DI), growth hormone deficiency (GHD) and, to a lesser degree, thyroid or cortisol deficiencies, have been reported after traumatic brain injury (TBI) in adults and much less in children both at the acute post-traumatic phase and after a lag period of time. However, no prospective data exist on the endocrine and acute phase protein response to TBI in childhood.Aim/objective: To unravel possibl...

hrp0084p3-1110 | Pituitary | ESPE2015

Two Cases of Combined Pituitary Hormone Deficiency Proven to have Mutations of GLI2

Nagashima Yuka , Takagi Masaki , Hasegawa Yukihiro , Sato Takeshi , Ishii Tomohiro , Hasegawa Tomonobu

Background: GLI2 is a transcription factor in Sonic Hedgehog signaling and implicated in ventral forebrain and pituitary development. GLI2 mutations were reported not only in patients with holoprosencephaly but also in patients with pituitary hormone deficiencies without holoprosencephaly. Other phenotypes of GLI2 mutations are midline facial defects, cleft hands and feet, and polydactyly. We report two patients with combined pituitary hormone defici...

hrp0084p3-1111 | Pituitary | ESPE2015

AVP-NPII Gene Mutations and Clinical Characteristics of the Patients with Autosomal Dominant Familial Central Diabetes Insipidus

Turkkahraman Doga , Saglar Emel , Karaduman Tugce , Mergen Hatice

Background: Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin–neurophysin II (AVP-NPII) gene that leads to aberrant preprohormone processing and gradual destruction of AVP-secreting cells.Objective and hypotheses: To determine clinical and molecular characteristics of patients with familial central DI from two different families.Method: The diagnosi...

hrp0084p3-1112 | Pituitary | ESPE2015

A Boy with Combined Pituitary Hormone Deficiency and Agenesis of Right Internal Carotid Artery: A Rare Association or a Simple Coincidence?

Vieira TC , Ramos Carolina , Vellutini Eduardo

Background: Congenital combined pituitary hormone deficiency (CPHD) may be associated with pituitary/extra pituitary abnormalities. Well-known causes are mutations in pituitary transcription factor genes. Agenesis of internal carotid artery (ICA) is a rare vascular anomaly that has been associated with CPHD.Case presentation: The patient is a 2-year old male, born at term to non-consanguineous parents, birth wt 3.2 kg, length 47 cm, no gestational or per...

hrp0084p3-1113 | Pituitary | ESPE2015

A Rare case of Congenital Hyperinsulinism Associated with Hypopituitarism due to Pituitary Stalk Interruption Syndrome

Alsaffar Hussain , Phanse Supriya , Didi Mohammed , Senniappan Senthil

Introduction: Congenital hyperinsulinism (CHI) is a rare genetic disorder that is characterised by persistent hypoglycaemia in infants and children. We are reporting a rare case of diffuse CHI who was also found to have hypopituitarism and several other congenital anomalies. A similar association has not been reported in literature.Case: A female baby was born at 42 weeks gestation with a birth weight of 4.185 kg (1.72SDS). She suffered shoulder dystocia...

hrp0084p3-1114 | Pituitary | ESPE2015

Management of Risperidone Induced Hyperprolactinemia in an Adolescent with Severe Autism

Giri Dinesh , Sanam Tayyaba , Oppenheim A , Senniappan Senthil , Das Urmi

Background: Risperidone is a second-generation antipsychotic medication, which inhibits dopamine and serotonin receptors. Around half of children and adolescents treated with risperidone develop hyperprolactinemia. Chronic hyperprolactinemia can lead to osteoporosis, cardiovascular disease and delayed growth and puberty. There is no available guidance on management of antipsychotic induced hyperprolactinemia in children. We describe the challenges in the management of a teenag...

hrp0084p3-1115 | Pituitary | ESPE2015

Stevens Johnson Syndrome in a Case with Type 1 Diabetes Mellitus: Relation or Coincidence?

Doger Esra , Camurdan Orhun , Akbas Emine Demet , Akin Onur , Yuce Ozge , Celik Nurullah , Bideci Aysun , Cinaz Peyami

Background: Stevens-Johnson Syndrome (SJS) is an acute life-threatening dermatosis characterized by conjunctivitis, oral ulcerations, fever and erythematous macules. The most important etiological factors are infections and drugs including anticonvulsants and nonsteroidal anti- inflammatories.Objective and hypotheses: Cases with both SJS and type 1 diabetes mellitus have been reported rarely in the literature. Herein, we report a diabetic case of recurre...

hrp0084p3-1116 | Pituitary | ESPE2015

Hormone Disorder and Vitamin Deficiency in Attention Deficit Hyperactivity Disorder (adhd) and Autism Spectrum Disorders (ASD)

Dogan Murat , Bala Keziban Asli , Mutluer Tuba , Kaba Sultan , Aslan Oktay , Dogan Sekibe Zehra

Objective: To evaluate thyroid hormones and antibodies, vitamins B12 and D levels, ferritin levels, adrenal and gonadal steroid levels in children diagnosed with ADHD and ASD.Material method: Patients between the ages of 2–18 years followed-up with the diagnosis of ADHD and ASD in the Van region were included in this study. The weights and heights of the patients were recorded and then the blood samples were obtained between 0800 and 0900 h. in the ...

hrp0084p3-1117 | Pituitary | ESPE2015

Two Novel Mutations in GLI2 Gene in Two Unrelated Argentinean Prepuberal Patients, One with Isolated Growth Hormone Deficiency, and Another with Multiple Pituitary Hormone Deficiency, Both with Developmental Defects in Posterior Pituitary Gland

Marino Roxana , Juanes Matias , Ramirez Pablo , Garrido Natalia Perez , Ciaccio Marta , Palma Isabel Di , Maceiras Mercedes , Lazzati Juan Manuel , Rivarola Marco Aurelio , Belgorosky Alicia

Background: Congenital growth hormone deficiency may be isolated (IGHD) or multiple pituitary hormone deficiency (MPHD). The Sonic Hedgehog signalling (SHH) pathway has an important role in the pituitary development and growth, acting early in ventral forebrain. The SHH signalling mediates its effects through three zinc fingers proteins (Gli1, Gli2 and Gli3), which lead to activation or repression of target genes. Several heterozygous GLI2 mutations have been reported in patie...

hrp0084p3-1118 | Pituitary | ESPE2015

Pituitary Stalk Interruption Syndrome Presenting with Normogonadotropic Amenorrhea and Hypoprolactinemia

Catli Gonul , Kocyigit Cemil , Can Sule Penbe , Dundar Bumin Nuri

Introduction: Pituitary stalk interruption syndrome (PSIS) is a rare congenital abnormality of the pituitary gland. Perinatal injuries, defective organogenesis or rare mutations of HESX1, LHX4, OTX3 and SOX3 are proposed to be the cause of PSIS in familial cases. It is characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary and hypoplasia or aplasia of the anterior pituitary. Typical features are tertiary hypothyroid...

hrp0084p3-1119 | Pituitary | ESPE2015

Paediatric CNS Germ Cell Tumours: Endocrine Outcome

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

Background: In paediatric CNS tumours, germ cell neoplasms usually produce endocrine disorders helping an early diagnosis.Objective and hypotheses: To describe presenting symptoms in paediatric CNS germ cell tumours and endocrine abnormalities on follow-up.Methods: We reviewed the records of children and adolescents aged under 14 who were followed in our unit presenting a CNS germ cell tumour. Endocrine abnormalities at diagnosis a...

hrp0084p3-1120 | Pituitary | ESPE2015

Description of Patients Diagnosed with Central Diabetes Insipidus, 14 Year Experience at the National Children’s Hospital, Costa Rica

Cavallo-Aita Fred , Montenegro-Villalobos Jiulliana

Background: Diabetes insipidus is a heterogeneous clinical syndrome involving an alteration in water balance. When caused by a deficiency in the production of antidiuretic hormone (ADH) it’s called central diabetes insipidus (CDI). It is difficult to establish the cause of CDI in a good proportion of patients and thus classified as idiopathic in 10.4–55.2%, according to various studies. There are no previous studies in our population.Objective ...

hrp0084p3-1121 | Pituitary | ESPE2015

Pegvisomant in Child Acromegaly

Anna Vaczlavik , Cecile Teinturier , Stephan Gaillard , Pierre-Francois Bougneres , Philippe Chanson

Background: Acromegaly is a rare childhood disorder. The use of a growth hormone (GH) receptor antagonist, pegvisomant, has shown great results in adults with acromegaly. We describe results of pegvisomant therapy in two girls with invasive GH pituitary macroadenomas.Case presentation: Case 1: A somatotroph pituitary macroadenoma was diagnosed in a 8-year-old girl with progressive tall stature (height: 148 cm, >+3 S.D.; growth velocity...

hrp0084p3-1122 | Pituitary | ESPE2015

Case Series; Central Diabetes Insipidus Presenting to a District General Hospital

Keelty Gemma , Weerasinghe Kamal , Gregory John

Background: In a paediatric setting polydipsia can be a commonly reported symptom which is usually innocent and habitual in nature. Diabetes Insipidus is a rare cause of pathological polydipsia. A high index of suspicion must be used in patients who exhibit other symptoms alongside polydipsia and investigations considered.Case presentation: We present three patients who have presented to a district general hospital within a short period of time with subs...

hrp0084p3-1123 | Pituitary | ESPE2015

A 5-Year-Old Patient with Cushing’s Disease

Ushijima Kikumi , Sasaki Takako , Yatsuga Syuichi , Yasutoshi Koga

Background: The overall incidence of Cushing’s syndrome in children is ~0.2–0.5 new cases per million people per year. Cushing’s disease is more infrequent under 7-year-old children. The typical symptoms are not often observed in childhood. Therefore, the early diagnosis is difficult, when pituitary tumour is not detected by pituitary MRI.Objective and hypotheses: A 5-year-old boy was referred to our hospital by a decrease in growth veloci...

hrp0084p3-1124 | Pituitary | ESPE2015

Sequelae in Giant Prolactinoma in a Teenage Boy

Queirolo Sara , Balice Piero

Background: Macroprolactinomas are rare during childhood. Hypopituitarism is a common feature and recovery of pituitary function was reported following cabergoline therapy.Objective: We present a case of 13 year-old boy with macroprolactinoma who responded to cabergoline therapy with a complete regression of the tumor with a partial empty sella.Results: He complained of a decreased of right vision since 1 year. Evaluation of anteri...

hrp0084p3-1125 | Pituitary | ESPE2015

Combined Pituitary Hormone Deficiency

Kot Karolina , Moszczynska Elzbieta , Szalecki Mieczyslaw

Background: Combined pituitary hormone deficiency (CPHD) may be congenital or acquired disorder, which affects more than one hormonal axis. Congenital hipopituitarism includes heterogenic group of disturbances. It may be result of mutations or deletions in genes for signaling and transcription factors responsible for pituitary development. The disorder might affect one or multiple family members. The age of appearance and intensity of the first hormone deficiency symptoms may ...

hrp0084p3-1126 | Pituitary | ESPE2015

Outstanding Growth Response to Growth Hormone Replacement Therapy in 3 Different Cases of Growth Hormone Deficiency

Saranac Ljiljana , Djuric Zlatko , Markovic Ivana , Stamenkovic Hristina , Lazarevic Dragoljub , Cvetkovic Vesna

Background: Growth response in growth hormone deficient children during growth hormone (GH) replacement therapy rarely fulfil our projections and patient’s expectations. We here report 3 cases with outstanding growth response.Case reports: First patient was diagnosed as gluten enteropathy in early childhood, but the diet did not improve his growth. At age of 7 years the diagnosis of isolated growth hormone deficiency (GHD) was established and GH sub...

hrp0084p3-1127 | Pituitary | ESPE2015

Pituitary Stalk Interruption Syndrome: A Case of an Infant

Kendirci Havva Nur Peltek , Kaya Zafer

Background: Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital abnormality of the pituitary that is responsible for anterior pituitary deficiency. It is characterized by a classic triad of interrupted pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia. Hypothalamic hypothyroidism, hyperprolactinemia and deficiency of anterior pituitary hormones are typical characteristics. Clinical presentation varies according t...

hrp0084p3-1128 | Pituitary | ESPE2015

Congenital Adiptical Diabetes Insipidus: A Clinical Case

Zagrebaeva Olga , Solntsava Anzhalika , Kniazkina Olga , Barash Olga , Kizevich Natalia

Background: Congenital adiptical diabetes insipidus is rare condition in infancy. Immediate diagnosis and treatment is required to ensure normal development.Case report: A boy, from the 2nd pregnancy, 1st term delivery was born with weight 4480 g. Bottle feeding from the 1st months. Weight at 1st months – 4500 g, at 2nd – 5000 g. Until the first 2 months mother complained on child’s apathia, feeding problems, vomiting, weight stagnation. A...

hrp0084p3-1129 | Pituitary | ESPE2015

Thickened Pituitary Stalk with Central Diabetes Insipidus: What Diagnosis?

Merazka Amel , Achir S , Baz O , Foudil D , Mimouni S

Background: Central diabetes insipidus (DIC) is usually the final result of lesions affecting the hypothalamic–neurohypophysal system, for the children, Germinoma is the main reason. The MRI aspect is often limited to thickness pituitary stalk with loss of hyperintensity of the neurohypophysis.Objective and hypotheses: Thickening of pituitary stalk is suggestive of germinoma, the clinical picture is dominated by a DIC (90%), associated to hypopituit...