Previous issue | Volume 84 | ESPE2015 | Next issue

54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

Card image cap
Barcelona, Spain; 1-3 October 2015 Further information

hrp0084p1-111 | Puberty | ESPE2015

Serum Neurokinin B Level can be Used to Differentiate Central Precocious Puberty from Premature Thelarche

Parlak Mesut , Turkkahraman Doga , Ellidag Hamit Yasar , Parlak Ayse Eda

Background: Neurokinin B and kisspeptin appear to play main roles in puberty.Aims and objectives: The aim of the present study was to investigate the diagnostic role of kisspeptin and neurokinin B in central precocious puberty (CPP) and premature thelarche (PT).Methods: The girls who presented with breast development (between 5 and 8 years) were included in the study. All cases underwent bone age (BA) assesment. Basal serum FSH, LH...

hrp0084p1-112 | Puberty | ESPE2015

Aetiological Spectrum and Clinical Characteristics of 129 Children with Gonadotropin Independent Precocious Puberty: A Nationwide Cohort Study

Atay Zeynep , Yesilkaya Ediz , Erdeve Senay Savas , Akin Leyla , Eren Erdal , Doger Esra , Aycan Zehra , Abali Zehra Yavas , Akinci Aysehan , Siklar Zeynep , Ozen Samim , Kara Cengiz , Tayfun Meltem , Tutunculer Filiz , Karabulut Gulcan Seymen , Karaguzel Gulay , Saglam Halil , Bideci Aysun , Kurtoglu Selim , Bereket Abdullah , Turan Serap , Sari Erkan , Cetinkaya Semra , Guran Tulay

Background: Gonadotropin independent precocious puberty (GIPP) is caused by a heterogenous group of disorders. With the exception of congenital adrenal hyperplasia (CAH), disorders causing GIPP are uncommon, and there are no studies evaluating the etiologic distribution of GIPP in a large cohort.Objective and hypotheses: To find out the relative frequencies of each etiological group in patients with non-CAH GIPP and also to evaluate the clinical and labo...

hrp0084p1-113 | Puberty | ESPE2015

Relevance of Astrocytic Signals for GnRH-Neuronal Function

Ernst Johanna , Moeller Hanna , Pfeifer Manuel , Heger Sabine

Background: Gonadotropin releasing hormone (GnRH)-secretion is not only regulated by neuronal factors but also by astroglia cells via growth factors (transforming growth factor α (TGFα), neuregulin (NRG)), prostaglandin E2 (PGE2) and the erbB receptor family. Mutations of TGFα and erbB1 result in an impaired reproductive capacity. Mice show a characteristically skin phenotype with wavy hair and curly whiskers. The rat strain SPRD-Cu3 (curly) shows a sim...

hrp0084p1-114 | Puberty | ESPE2015

Screening of Mutations in Idiopathic Hypogonadotropic Hypogonadism Using a Targeted Next-Generation Sequencing Approach

Kolodkina Anna , Kareva Maria , Kalinchenko Natalia , Raygorodskaya Nadezhda , Malievsky Oleg , Fidelina Olga , Vasilyev Evgeny , Petrov Vasily , Naumova Maria , Tiulpakov Anatoly

Background: To date at least 30 genes are known to be associated with idiopathic hypogonadotropic hypogonadism (IHH). Analysis of all these gene candidates by Sanger sequencing would be expensive, labour-intensive and time-consuming. Recent introduction of next-generation sequencing (NGS) enables simultaneous analysis of multiple gene targets making it an attractive approach in such conditions as IHHObjective and hypotheses: To study the spectrum of mole...

hrp0084p1-115 | Puberty | ESPE2015

Clinical Guidance on 17β-Oestradiol and LH Serum Levels in Girls with Premature Thelarche Based on Clinical Outcome of 129 Girls Aged up to 4 Year with Premature Thelarche in West Sweden

Osterbrand Martin , Alvin Kerstin , Fors Hans , Norjavaara Ensio

Background: Simple clinical investigations to differ harmless premature thelarche (PT) from pubertal precocity and other pathological conditions are needed as PT is a common condition in girls under the age of 3–4 year.Objective and hypotheses: Since 17β-oestradiol (17β-E2) is the major driver of breast development, the hypothesis is, that it is possible to define an upper serum 17β-oestradiol (17β-E2) level for harmless PT in gi...

hrp0084p1-116 | Puberty | ESPE2015

FSHB/FSHR Genetic Variants alter Serum FSH Levels and Prepubertal Ovarian Follicular Growth in Healthy Girls

Busch Alexander S , Hagen Casper P , Almstrup Kristian , Main Katharina M , Juul Anders

Background: Single nucleotide polymorphisms (SNPs) related to genes encoding the FSHβ subunit and FSH receptor (FSHB/FSHR) affect FSH production (FSHB c.-211G>T) and receptor sensitivity/expression in vitro (FSHR c.2039A>G & FSHR c.-29G>A). FSHR c.2039A>G, but not FSHR c.-29G>A, is associated with increased FSH levels in adult women, while there are conflicting results on F...

hrp0084p1-117 | Puberty | ESPE2015

Transient Breast Budding in Healthy Girls is a Frequent Phenomenon: Description of Pubertal Progression and Associations to Gonadotropins, Estradiol and FSHB/FSHR Genetic Polymorphisms

Johansen Marie Lindhardt , Hagen Casper P , Mieritz Mikkel G , Petersen Jorgen Holm , Juul Anders

Background: Intermittent breast budding (girls entering stage B2 and then subsequently regressing to B1) in healthy girls is a frequent phenomenon observed by most clinicians. However, little is known of normal progression of female puberty, and the phenomenon of transient breast development has, to our knowledge, never been studied in details.Objective and hypotheses: We present and validate the female Puberty Nomogram indicating age specific SD<...

hrp0084p1-118 | Puberty | ESPE2015

Specific Hypothalamic Activation Pattern by mGlu5 Receptor Blockade in vivo During Pubertal Development in Female Mice

Inta Ioana , de Angelis Roberto , Lankisch Katja , Dormann Christof , Pfeiffer Natascha , Boehm Ulrich , Gass Peter , Bettendorf Markus

Background: Puberty is characterised by important changes of brain networks. The glutamate system plays a main role in modulating the onset of puberty as shown for NMDA receptor agonists. However, the underlying mechanisms are poorly understood. Metabotropic mGlu5 receptors (mGluR5) are tightly linked to NMDA receptors. The effect of mGluR5 blockade on neurohormonal mechanisms in puberty initiation were not studied yet.Objective and hypotheses: To invest...

hrp0084p1-119 | Puberty | ESPE2015

Lipid Profiles in Gender Dysphoric Adolescents Treated with GnRH Agonists Alone and in Combination with Cross-Sex Hormones

Schagen Sebastian , Delemarre-van de Waal Henriette , Hannema Sabine

Background: In gender dysphoric adolescents GnRH agonists can be used to suppress pubertal development of the natal sex. Subsequently cross sex hormones can be given to induce pubertal development of the experienced gender. Only few data are available on the safety of this treatment. Lipid levels are known to increase during puberty and pubertal suppression may alter this increase. In gender dysphoric male-to female (MtF) adults oestrogens has been shown to result in a more fa...

hrp0084p1-120 | Puberty | ESPE2015

A Novel LHX4 Mutation is Associated with Hypogonadotropic Hypogonadism, Not Combined Pituitary Hormone Deficiency

Takagi Masaki , Daitsu Takashi , Numakura Chikahiko , Sato Takeshi , Narumi Satoshi , Hasegawa Tomonobu

Background: Mutations in HESX1, SOX3 responsible for combined pituitary hormone deficiency (CPHD) have been identified in a small number of hypogonadotropic hypogonadism (HH), suggesting that the genetic overlap between CPHD and HH.Case presentation: A 2-month-old boy was referred because of micropenis (stretched penile length 1.0 cm) with intrascrotal testes (1 ml). Hormone assays revealed very-low plasma testosterone levels (0.06 ng/m...

hrp0084p1-121 | Puberty | ESPE2015

A Missense Mutation in MKRN3 in a Danish Girl with Central Precocious Puberty and Her Brother with Early Puberty

Kansakoski Johanna , Raivio Taneli , Juul Anders , Tommiska Johanna

Background: Idiopathic central precocious puberty (ICPP) results from the premature reactivation of the hypothalamic-pituitary-gonadal axis leading to development of secondary sexual characteristics prior to 8 years in girls or 9 years in boys. Mutations in the maternally imprinted MKNR3 gene are the most common identified genetic cause of ICPP to date. Expression of MKRN3 in the arcuate nucleus is presumed to be inhibitory to GnRH secretion, but the exact mechanism remains un...