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

Poster Presentations

Reproduction (1)

hrp0082p1-d2-210 | Reproduction (1) | ESPE2014

Messenger Ribonucleic Acid Expression of Kiss-1 and Serum Level of Kisspeptin in Rat at Different Developmental Stages

Reum Kwon Ah , Hee Kim Duk , Min Ahn Jung , Song Kyungchul , Wook Chae Hyun , Kim Ho-Seong , Jin Kim Ye , Hyuk Kim Yong

Background: KiSS-1 and its product, kisspeptin is necessary for puberty onset and proper adult gonadal function due to its stimulatory effect on the secretion of gonadotropin-releasing hormone (GnRH). Although the pathophysiological importance of KiSS-1 and kisspeptin is well known, the developmental patterns of expression of KiSS-1 genes and serum level of kisspeptin have not been explored to date.Objective and hypotheses: We report herein the expressio...

hrp0082p1-d2-211 | Reproduction (1) | ESPE2014

The Incidence of Childhood Gonadoblastoma Over 15 Years in the Republic of Ireland

O'Connell Susan M , Lynch Sally-Ann , Coyle David , McDermott Michael , O'Sullivan Maureen , Roche Edna , Quinn Feargal , Cody Declan

Background: Gonadoblastoma is a rare tumour of the gonads presenting in childhood or adolescence. It is a lesion composed of a mixture of germ cells at different stages of maturation, with low malignant potential. It is associated with disorders of sex development (DSD), most commonly Turner mosaic syndrome with Y chromosome material (TMSY), and 46XY gonadal dysgenesis (GD). Little is known about the natural history and incidence of this rare tumour.Obje...

hrp0082p1-d2-212 | Reproduction (1) | ESPE2014

A Novel MKRN3 Mutation Discovered in a Korean Girl with Central Precocious Puberty

Sang Lee Hae , Sub Lim Jung , Soon Hwang Jin , Young Kim Eun

Context: It has recently been shown that mutations of MKRN3, the gene encoding makorin RING-finger protein 3, lead to central precocious puberty (CPP). The aim of this study was to investigate mutations of the MKRN3 gene in Korean girls with CPP.Methods: Two hundred and sixty Korean girls with idiopathic CPP were included in this study. Auxological and endocrine parameters were measured. The entire MKRN3 gene was directly seque...

hrp0082p1-d2-213 | Reproduction (1) | ESPE2014

The Association of Moebius Syndrome and Kallman Syndrome is Due to a Specific Mutation of TUBB3

Amouyal Melanie , Bouvagnet Patrice , Rochette Galliane , de Roux Nicolas

Background: Between the 6000 monogenic disorders, only few are due to a single mutation. Recently, a specific mutation has been described in TUBB3, encoding tubulin beta 3, in the association of Moebius syndrome (MS) and Kallmann syndrome (KS). MS is a congenital paralysis of eye and face’s muscles and can be caused by mutations of TUBB3. KS combines hypogonadotropic hypogonadism and anosmia.Objective and hypotheses: The combination of these two syn...

hrp0082p1-d2-214 | Reproduction (1) | ESPE2014

Early Medical Treatment of Children with Gender Dysphoria: an Empirical Ethical Study on Arguments of Proponents and Opponents Concerning Early Interventions

de Vries Martine , Vrouenraets Lieke , Wichmann Anne , Schermer Maartje , Fredriks Miranda , Delemarre-van de Waal Henriette

Background: Both The Endocrine Society and the World Professional Association for Transgender Health (WPATH) published guidelines for the treatment of children and adolescents with gender dysphoria (GD). The guidelines recommend the use of GnRH agonists in adolescence to suppress puberty, and the use of cross-sex hormones starting around age 16 for eligible patients. In actual practice, there is no consensus whether to use these early medical interventions. The aim of our stud...

hrp0082p1-d2-215 | Reproduction (1) | ESPE2014

Serum Inhibin-B Values in Boys with Unilateral Cryptorchidism and Boys with Unilateral Vanished Testis

Cortes Dina , Thorup Jorgen

Background: In some recent materials of blood samples from boys with cryptorchidism gonadotropins are higher and serum inhibin-B lower than normal. Inhibin-B is produced by the Sertoli-cells and to some extent serum values of inhibin-B reflect the state of germinative epithelium in cryptorchid testes. In boys with bilateral vanished testes the serum inhibin-B level is close to zero.Objectives and hypotheses: Aim of study was to evaluate the serum inhibin...

hrp0082p1-d2-216 | Reproduction (1) | ESPE2014

IGSF1 Variants in Boys with Familial Delayed Puberty

Joustra Sjoerd , Wehkalampi Karoliina , Oostdijk Wilma , Biermasz Nienke , Howards Sasha , Bernard Daniel , Maarten Wit Jan , Dunkel Leo , Losekoot Monique

Background: The immunoglobulin superfamily member 1 (IGSF1) gene encodes a plasma membrane glycoprotein enriched in pituitary and testes. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism (CeH), macroorchidism, and delayed pubertal rise of testosterone despite normal timing of testicular growth. This syndrome was discovered in patients with CeH; therefore, it is presently unknown whether IGSF1 mutations also cau...

hrp0082p1-d2-217 | Reproduction (1) | ESPE2014

Reference Charts for Testicular Volume in Dutch Children and Adolescents

Joustra Sjoerd , van der Plas Evelyn , Goede Joery , Oostdijk Wilma , Delemarre - Van de Waal Henriette , Hack Wilfried , van Buuren Stef , Maarten Wit Jan

Background: Measurement of testicular volume is important when conditions associated with a delay or advance in the onset of puberty, or micro- and macroorchidism, are suspected. Measured testicular volumes must be compared with reference data, preferably expressed in S.D. curves using the LMS method, as is routinely done for many auxological measurements in pediatrics. The current study therefore aimed to construct LMS-smoothed age-reference charts for testicul...

hrp0082p1-d2-218 | Reproduction (1) | ESPE2014

High Incidence of Genetic Defects in a Cohort of 24 Male Adolescents with Persistent Pubertal Gynecomastia

Paris Francoise , Gaspari Laura , MBou Felicien , Philibert Pascal , Lauber-Biason Anna , Sultan Charles

Background: Pubertal gynecomastia is a common condition appearing in up to 65% of adolescent boys. However, if male breast development is over B3–B4 and lasts more than 2–3 years, persistent pubertal gynecomastia (PPG) may be the sign of serious endocrine disease and the source of considerable psychological discomfort.Objective and hypotheses: We investigated a cohort of 24 adolescents with PPG followed at the Pediatric Endocrinogy Unit over a ...

hrp0082p1-d2-219 | Reproduction (1) | ESPE2014

Mutation Analysis of the KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3 Genes in Girls with Central Precocious Puberty

Kim Yoo-Mi , Hye Kim Ja , Hyang Cho Ja , Choi Jin-Ho , Yoo Han-Wook

Background: Central precocious puberty (CPP) is mostly idiopathic, however, familial cases of CPP and evidence of genetic factors on pubertal timing by genome-wide association studies suggested genetic causes of CPP.Objective and hypotheses: Molecular defects in six genes (KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3) have been known to cause early activation of the hypothalamic-pituitary–gonad...

hrp0082p1-d2-220 | Reproduction (1) | ESPE2014

Successful Treatment of Male Congenital Hypogonadotropic Hypogonadism with rFSH Pretreatment Followed by GnRH

Mizuno Haruo , Aoyama Kohei , Saitoh Shinji

Background: Congenital hypogonadotropic hypogonadism (CHH) is a group of rare disorders responsible for insufficient secretion of the pituitary gonadotropins LH and FSH. We have observed CHH in men with poorer responses to human chorionic gonadotropin (hCG), or combined FSH and hCG for testicular maturation and fertility after adolescence.Objective and hypotheses: The purpose of this research is to clarify how best to tailor-make treatment according to t...