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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

hrp0084p2-521 | Puberty | ESPE2015

A Novel Entity Characterised by GH Deficiency and Central Precocious Puberty in Two Siblings and their Father, in the Absence of Central Nervous System Defect

Voutetakis Antonis , Chiotis Dimitris , Dracopoulou-Vabouli Maria , Magiakou Alexandra-Maria , Chrousos Georgia , Chrousos George , Dacou-Voutetakis Catherine

Background: The association of GH deficiency (GHD) with central precocious puberty (CPP) has been reported in individuals with central nervous system (CNS) abnormalities, congenital or acquired. Co-existence of GHD and CPP has been rarely reported, always as an isolated, sporadic disorder.Objective and hypotheses: To present the familial occurrence of combined GHD and CPP.Method: GH was measured post L DOPA, glucagon and GHRH and g...

hrp0084p2-522 | Puberty | ESPE2015

Effect of Specimen Repeated Freeze-Thaw Cycles on Urinary Gonadotropin Determined by Immunochemiluminometric Assays

Ma Yaping , Xu Zhuangjian , Hu Yu , Zhu Wenying , Wang Qing

Background: It remains unclear whether specimen repeated freeze-thaw cycles can influence urinary lutenising hormone (LH) and follicular stimulating hormone (FSH) assayed by immunochemiluminometric assays (ICMA).Objective and hypotheses: To investigate the effect of specimen repeated freeze-thaw cycles on urinary LH and FSH determined by ICMA.Method: The first morning-voided urine was collected and divided two parts. One part was s...

hrp0084p2-523 | Puberty | ESPE2015

Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes

Correa Fernanda A , Franca Marcela M , Canton Ana P M , Otto Aline P , Costalonga Everlayny F , Brito Vinicius N , Carvalho Luciani R , Costa Silvia , Arnhold Ivo J P , Jorge Alexander A L , Rosenberg Carla , Mendonca Berenice B

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

hrp0084p2-524 | Puberty | ESPE2015

Pulsatile GnRH is Superior to hCG in Therapeutic Efficacy in Adolescent Boys with Hypogonadotropic Hypogonadodism

Gong Chunxiu , Liu Ying , Qin Miao , Wu Di , Wang Xiaoling

Background: We investigate the efficacy and safety of two different treatments which have not been evaluated in peri-puberty boys with HH.Objective and hypotheses: To assess the effectiveness and safety of pulsatile GnRH or hCG treatment in adolescent boys with hypogonadotropic hypogonadodism.Method: 12 patients received 8–10 μg of GnRH, subcutaneously injected every 90 min using a pump. Another 22 patients received hCG, ...

hrp0084p2-525 | Puberty | ESPE2015

The Lack of MKRN3 Gene Mutations in Patients with Idiopathic Sporadic GnRH-Dependent Precocious Puberty

Wikiera Beata , Pesz Karolina , Petriczko Elzbieta , Nocon-Bohusz Julita , Urbanowicz Ewa , Walczak Mieczyslaw , Sasiadek Maria , Noczynska Anna

Background: Central precocious puberty (CPP) results from activation of the hypothalamic-pituitary-gonadal axis before the age of 8 years in girls and 9 years in boys. The molecular basis of the maturation of this axis is still poorly understood. The MRKN3 gene located in the Prader-Willi syndrome critical region (chromosome 15q11–q13), inhibit factors stimulating pulsative. GnRH secretion. In 2013 inactivating mutations in the MRKN3 gene were discovered...

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...

hrp0084p2-527 | Puberty | ESPE2015

Evaluation of Final Height in Girls Taking GnRH Analogue: Should the Age Limit for Precocious Puberty be Changed?

Vuralli Dogus , Dallar Yildiz Bilge , Tapci Esra , Engiz Ozlem , Simsek Enver

Background: The age limit for precocious puberty (PP) in girls is a topic that continues to be debated, and there is a new trend that supports the idea that the beginning of breast development in girls between ages 6 and 8 should not be accepted as true PP and it is necessary to label this clinical condition as accelerated puberty or early normal puberty.Objective and hypotheses: The aim of the current study is to determine the diagnostic criteria for gi...

hrp0084p2-528 | Puberty | ESPE2015

Correlation of Clinical Phenotype and Genotype of Prader-Willi Syndrome and the Deletion of Paternal MKRN3 Allele in PWS Patients with Central Precocious Puberty

Cho Ja Hyang , Kang Eungu , Choi Jin-Ho , Kim Gu-Hwan , Seo Eul-Ju , Yoo Han-Wook

Background: Prader-Willi syndrome (PWS) is caused by the deletion of the paternally-derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). Puberty is usually delayed and central precocious puberty (CPP) is very rare in PWS.Objective and hypotheses: This study was undertaken to correlate clinical features focusing on pubertal progression with genotype with or without MKRN3 deletion to understand the mechanism of C...

hrp0084p2-529 | Puberty | ESPE2015

Doppler Evaluation of the Uterine Artery for the Diagnosis and Follow-Up of Patients with Precocious Puberty

Linares Jeannette , Espinoza Anibal , Riquelme Joel , Avila Alejandra , Cassorla Fernando

Background: Pelvic ultrasound is used for the diagnosis and follow-up of girls with precocious puberty (PP). This tool may be somewhat misleading, because during treatment some patients may persist with pubertal uterine and ovarian anatomy. Oestrogens decrease the resistance of the uterine arteries, so Doppler evaluation of these vessels might be a useful complementary exam to determine the effects of treatment in these patients.Objective and hypotheses:...

hrp0084p2-530 | Puberty | ESPE2015

Nephrogenic Diabetes Insipidus with Partial Response to Ddavp Caused by a Novel AVPR2 Splice Site Mutation

Schernthaner-Reiter Marie Helene , Adams David , Nilsson Ola , Trivellin Giampaolo , Ramnitz Mary Scott , Raygada Margarita , Golas Gretchen , Faucz Fabio R. , Dileepan Kavitha , Lodish Maya B. , Lee Paul R. , Markello Thomas C. , Tifft Cynthia J. , Gahl William A. , Stratakis Constantine A.

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...

hrp0084p2-531 | Puberty | ESPE2015

Regional Brain Volume and Luteinising Hormone in Girls with Idiopathic Central Precocious Puberty

Kim Eun Young , Park Shin Eui , Kim Min Sun

Background: During puberty, gray matter (GM) volume decreases and white matter (WM) volume increases in brain. It has been suggested that pubertal hormones may induce some neuroanatomical changes during puberty. Central precocious puberty (CPP) is caused by premature activation of the hypothalamus-pituitary-gonadal axis in inappropriately early age. However, little is known about the differences of brain structure (especially brain volume) in idiopathic CPP. Also the relation ...

hrp0084p2-532 | Puberty | ESPE2015

Determination of Final Height in Girls with Precocious Puberty. Which is the Most Accurate Method?

Quiroga Daniela , Pinochet Constanza , Cerda Jaime , Cattani Andreina , Garcia Hernan

Background: Central precocious puberty (CPP) is a common condition in girls and has been associated with deterioration of final height (FH). Height prognosis (HP) is critical for the decision of treatment in CPP. There are several methods for predicting FH in CPP but none is completely reliable. Most methods consider bone age (BA), which is very imprecise, but there is no consensus on which method is the best to estimate FH.Objective: To compare the accu...

hrp0084p2-533 | Puberty | ESPE2015

The Relationship between Steriod Receptors and Aromatase in the Mouse Brain

Yilmaz Bertan , Zhao Hong , Brooks David , Fenkci Veysel , Yenicesu Gonca , Attar Erkut , Bulun Serdar

Background: Local oestrogen production in the brain regulates critical functions including neuronal development, gonadotropin secretion and sexual behaviour. In the mouse brain, a 36 kb distal promoter (l.f) regulates the Cyp19a1 gene that encodes aromatase, the key enzyme for oestrogen biosynthesis. In vitro, promoter l.f interacts with oestrogen receptor alpha (Esr1) and Progesterone receptor (Pgr) to mediate Cyp19a1 mRNA expressi...

hrp0084p2-534 | Puberty | ESPE2015

Evaluation of Body Proportions in Children with Precocious or Delayed Puberty

Wagner Anaelle , Phan-Hug Franziska , Stoppa-Vaucher Sophie , Elowe-Gruau Eglantine , Dwyer Andrew , Pichard Silvia , Pitteloud Nelly , Hauschild Michael

Background: Over the past 20 years there is growing evidence that onset of puberty and changes in body proportions occur at an earlier age, especially in girls. Several studies have suggested this trend is linked to increasing rates of overweight and obese children. However, data on delayed pubertal trends are scant.Objective and hypotheses: To characterize body proportions of children evaluated for pubertal disorders.Method: Retro...

hrp0084p2-535 | Puberty | ESPE2015

GH Deficiency with Advanced Bone Age: GHRH Receptor Mutation Detected by Exome Sequencing Associated to Non-Classical Congenital Adrenal Hyperplasia (CAH)

Correa Fernanda de Azevedo , Franca Marcela M , Fang Qing , Ma Qianyi , Bachega Tania A , Mendonca Berenice B , LJorge Alexander , Carvalho Luciani R , Camper Sally A , Arnhold Ivo J P

Background: Isolated Growth Hormone Deficiency (IGHD) is usually associated with a delayed bone age. A genetic cause for IGHD is more frequently found in patients with familial cases and/or consanguineous parents.Objective and hypotheses: To diagnose the genetic cause of IGHD and clarify the unusual clinical presentation of advanced bone age in one patient born to consanguineous parents.Method: Sanger sequencing of GH1, <e...

hrp0084p2-536 | Puberty | ESPE2015

Ultra-Deep Next-Generation Sequencing: A reliable Method for the Molecular Diagnosis of McCune Albright Syndrome

Mallet-Motak Delphine , Roucher-Boulez Florence , Nicolino Marc , Morel Yves

Background: The molecular diagnosis of McCune Albright syndrome (MAS) is difficult because the detection of somatic GNAS1 mutations is usually performed in blood, in which the fraction of mutated allele could be barely detectable. To improve the usual techniques (selective enrichment, either with nested PCR and enzymatic digestion or with use of peptide nucleic acid probes), and to avoid technical problems like contamination, a new approach using next generation seque...

hrp0084p2-537 | Puberty | ESPE2015

Increased Ambulatory Blood Pressure in Adolescents with Gender Dysphoria Treated with Gonadotropin- Releasing Hormone Analogues

Klink Daniel , Bokenkamp Arend , Atsma Eline , Rotteveel Joost

Background: Adolescents with gender dysphoria (GD) are treated with gonadotropin-releasing hormone analogues (GnRHa) to prevent the development of characteristics of the undesired sex. Subsequently, sex steroids of the desired sex, cross sex hormones (CSH) are added. GnRHa treatment is generally considered to be safe in the treatment of precocious puberty in children. However, we observed that some adolescents with GD developed hypertension during GnRHa monotherapy (Klink D <e...

hrp0084p2-538 | Puberty | ESPE2015

Plasma Humanin Levels During Normal Childhood and Puberty. Study of Possible Correlations with Sex, Age, and Insulin Levels

Dona Valeria De , Ciaccio Marta , Wan Junxiang , Guercio Gabriela , Vaiani Elisa , Krochik Gabriela , Maceiras Mercedes , Lazzati Juan Manuel , Rivarola Marco , Cohen Pinchas , Belgorosky Alicia

Background: Humanin is a novel signaling peptide which has been showed, by in vitro and in vivo studies, to improve insulin sensitivity. As plasma humanin levels decrease during adulthood, particularly during aging, it has been proposed that the increment of insulin resistance in aging might be associated with lesser humanin plasma values.Objective and hypotheses: The physiological insulin resistance observed during puberty in normal ch...

hrp0084p2-539 | Puberty | ESPE2015

GnRH Infusion in Females with Hypogonadotropic Hypogonadism

Freire Analia , Arcari Andrea , Grinspon Romina , Ballerini Maria Gabriela , Sanguineti Nora , Bergada Ignacio , Escobar Maria Eugenia , Ropelato Maria Gabriela , Gryngarten Mirta

Background: Hypogonadotropic hypogonadism (HH) in females is an uncommon and heterogeneous condition. There is little data regarding biochemical profile of gonadotropins to further substantiate the diagnosis.Objective: To evaluate the gonadotropaic secretion profile after GnRH infusion in a female cohort diagnosed with HH.Patients and methods: GnRH iv infusion test (0–120 min) were performed in 17 patients (17.5±2.3 years...

hrp0084p2-540 | Puberty | ESPE2015

A Case of Familial Central Precocious Puberty Caused by a Novel Mutation in the Makorin RING Finger Protein 3 Gene

Grandone Anna , Cantelmi Grazia , Marzuillo Pierluigi , Cirillo Grazia , Luongo Caterina , Micillo Flora , Giudice Emanuele Miraglia del , Perrone Laura

Background: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated for the first time in five families with familial precocious puberty, with a peculiar kind of transmission. In fact, it is an imprinted gene which is expressed only if transmitted from the father. Th...

hrp0084p2-541 | Puberty | ESPE2015

Distribution of Mutations in Genes Known to be Associated with Familial Idiopathic Hypogonadotropic Hypogonadism in a Large Cohort

Kotan L. Damla , Mengen Eda , Gurbuz Fatih , Ozsu Elif , Tunc Selma , Kor Yilmaz , Cakir Esra P. , Abaci Ayhan , Demir Korcan , Akcay Teoman , Kirel Birgul , Kinik Sibel T. , Ozen Samim , Ucakturk Ahmet , Bideci Aysun , Durmaz Erdem , Unluhizarci Kursad , Turan Ihsan , Yuksel Bilgin , Topaloglu A. Kemal

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is characterised by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia.Objective and hypotheses: The objective of this study was to determine the distribution of causative mutations in an hereditary form of IHH.Method: In this prospective collaborative study, families with more than one aff...

hrp0084p2-542 | Puberty | ESPE2015

Gonadotropin-Releasing Hormone Agonist Analog (Tripotorelin) Stimulation Test in Evaluation of Pituitary -Testicular Function in Boys

Lin Xiuzhi , Ma Huamei , Li Yanhong , Du Minlian , Chen Hongshan , Chen Qiuli , Zhang Jun

Background: The hypothalamus-pituitary-gonad (HPG) axis is crutial to the development and function of reproductive system. Gonadotropin-releasing hormone (GnRH) has been the standard test for the assessment of activation of HPG axis. Because GnRH is no longer available, GnRH analogues (GnRHa) are now used. In previous studies, GnRHa stimulation tests have been the mainstay for establishing the diagnosis of precocious puberty in female and distinguishing constitutional delay of...

hrp0084p2-543 | Puberty | ESPE2015

The Endocrine Response to a Gonadotropin Releasing Hormone (GnRH) Test: Establishing a Reference Interval in Healthy Girls below 6 Years of Age

Vestergaard Esben , Somod Mia , Kamperis Kostas , Kastberg Karin , Rittig Soren , Kristensen Kurt , Birkebaek Niels

Background: Premature thelarche and precocious puberty are frequently diagnosed even in girls below 6 years of age. A GnRH test is often included in the diagnostic work up. Interpretation of the GnRH test in girls below 6 years of age is, however, difficult, because the reference interval has not been established in this age group.Objective and hypotheses: To establish the normal endocrine response to a GnRH test in healthy girls below 6 years of age.</p...

hrp0084p2-544 | Puberty | ESPE2015

Increasing BMI is Associated with Lower Luteinising Hormone Levels in Girls with Central Precocious Puberty at the Early Pubertal Stage

Lee Hae Sang , Kim Eun Young , Hwang Jin Soon

Background: Girls with precocious puberty have high LH levels and bone age was advanced over chronological age by 1 year. Obese children start puberty at an earlier age than non obese children. The mechanisms that cause obese children to grow faster starting from early childhood are not well defined.Objective and hypotheses: We analysed the effects of obesity on luteinising hormone (LH) secretion by using gonadotropin-releasing hormone (GnRH) tests in gi...

hrp0084p2-545 | Puberty | ESPE2015

Change of Growth Pattern and Bone Mineral Density in Ovariectomised Female Rats According to Oestrogen Dosage

Kang Byung Ho , Park Mun Suk , Yang You Jung , Lim Sung Jig , Shim Kye Shik

Objective and hypotheses: The purpose was to get the basic data of optimum serum concentration of oestrogen in pubertal growth spurt, minimising the decrease of bone mineral density or acceleration of epiphyseal closure of long bones.Method: i). Fifteen female S.D. rats (4-week aged) were ovariectomised to inhibit their endogenous oestrogen effect and randomly divided into three groups. After 1 week, the group 1 were injected subcutaneousl...

hrp0084p2-546 | Puberty | ESPE2015

Gynecomastia with Precocious Onset in Peutz-Jeghers Syndrome: Managing the Aromatase Overexpression

Simoes-Pereira Joana , Marques Ana Filipa , Limbert Catarina , Lopes Lurdes

Background: Testicular tumours are an unusual cause of prepubertal gynecomastia. However, in boys with Peutz-Jeghers Syndrome (PJS), a rare autosomal dominant disorder caused by mutation in LKB1/STK11 gene, is mandatory to exclude this etiology, given the well-known association between PJS and Large-Cell Calcyfing Sertoli-Cell Tumor (LCCSCT). This mutation promotes aromatase overexpression in neoplastic Sertoli-cells, leading to gynecomastia.Case present...

hrp0084p2-547 | Puberty | ESPE2015

The Impact of Growth Hormone (GH) Therapy Combined with Estrogens on Blood Pressure (BP), Cardiac Left Ventricular (LV) Dimensions and Lipid Metabolism in Pubertal Girls with Turner’s Syndrome (TS)

Nagaeva Elena , Shiryaeva Tatiana , Volevodz Natalia , Chikulaeva Olga , Pankratova Maria , Gavrilova Anna , Peterkova Valentina

Background: The risk of hypertension is estimated to occur in 7–17% of children and adolescents with TS. Even girls with TS who are normotensive have been shown an abnormal circadian BP rhythm, increasing the risk of end-organ hypertensive damage.Objective and hypotheses: We performed this study to assess the effects of GH treatment combined with estrogens for short stature on LV dimensions, systemic BP and lipid metabolism in girls with TS without ...

hrp0084p2-548 | Puberty | ESPE2015

Sensitivity of Measured Parental Height and Target Range in the Diagnosis of Turner Syndrome

Ouarezki Yasmine , Cizmecioglu Filiz , Mansour Chourouk , Jones Jeremy , Gault Emma Jane , Mason Avril , Donaldson Malcolm

Background: Girls with Turner syndrome (TS) are inappropriately short for their parents’ heights; measured parental height is therefore useful in diagnosis.Objective and hypotheses: To examine the sensitivity of measured parental height in the diagnosis of TS; and to audit the frequency of parental height measurement in our clinic.Method: Case note review of all girls with TS attending our dedicated Turner clinic between 1989&...

hrp0084p2-549 | Puberty | ESPE2015

Balance Control in Children and Adolescent Girls with Turner Syndrome

Peultier Laetitia , Gauchard Gerome , Leheup Bruno , Lebon-Labich Beatrice , Perrin Phlippe

Background: Turner syndrome (TS), affects approximately 1/2500 live female births. The clinical features range from a severe phenotypic character to reduction of final height and premature ovarian failure.Objective and hypotheses: Processing of sensory information from visual, vestibular and somatokinesthetic systems is required to organize an adequate motor response aiming at gaze and posture stabilization according to the expected task and to the envir...

hrp0084p2-550 | Puberty | ESPE2015

Short Stature with Neurodevelopmental Delay in Familial Variant Turner Syndrome

Chetan Madhurima , Puthi Vijith

Background: Turner syndrome (TS) is classically a sporadic cause of short stature and gonadal dysgenesis in girls. We report familial variant TS affecting twelve individuals of both sexes over three generations. Affected children manifest short stature and varying degrees of neurodevelopmental disorder but no visceral abnormalities.Case presentation: A 27-year-old female in her 12th pregnancy presented for 20-week ultrasound. Fetal cardiac and...