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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Rapid Free Communications

Neuroendocrinology

hrp0086rfc12.1 | Neuroendocrinology | ESPE2016

Molecular Genetic Diagnosis of Idiopathic Hypogonadotropic Hypogonadism by Using Targeted Next-Generation Sequencing

Aoyama Kohei , Suzuki Atsushi , Tanaka Tatsushi , Mizuno Haruo , Saitoh Shinji

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is a congenital heterogeneous disorder characterized by a deficiency of gonadotropin-releasing hormone. IHH can be categorised as IHH with anosmia/hyposmia (Kallmann syndrome: KS) or as normosmic (n)IHH. More than 25 genes have been identified in IHH. Nevertheless, patients with IHH are genetically diagnosed in only less than 50%.Objective: The objective of this study is to confirm the applicatio...

hrp0086rfc12.2 | Neuroendocrinology | ESPE2016

A Novel Mutation of KISS1R Causing a Normosmic Isolated Hypogonadotropic Hypogonadism

Yoshii Keisuke , Hugon-Rodin Justine , Gompel Anne , de Roux Nicolas

Background: Loss of function mutations in KISS1R, which encodes kisspeptin receptor have been reported in very few patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).Objective and hypotheses: To describe the phenotype of the nIHH female patient with a novel homozygous KISS1R mutation and to characterize functionally this mutation. The patient was a 28 year-old Senegalese woman with primary amenorrhea. She was the seco...

hrp0086rfc12.3 | Neuroendocrinology | ESPE2016

Next Generation Sequencing and Precocious Puberty: A New Diagnostic Challenge to Identify the Molecular Basis of Complex Diseases

La Barbera Andrea , Provenzano Aldesia , Artuso Rosangela , Orlandini Valerio , Giglio Sabrina , Stagi Stefano

Background: Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. This condition results from a constant and complex interplay between predisposing genes and environmental factors. To date, the molecular analysis are all focused on reproductive-endocrine disorders such as Kallmann syndrome and hypogonadotropic hypogonadism, while the genetic bases of pubertal timing are still unclear.<p ...

hrp0086rfc12.4 | Neuroendocrinology | ESPE2016

Molecular Screening of MKRN3, DLK1 and KCNK9 Genes in Central Precocious Puberty

Grandone Anna , Sasso Marcella , Cirillo Grazia , Luongo Caterina , Mariani Michela , del Giudice Emanuele MIraglia , 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 has been found mutated for the first time in 5 families with familial precocious puberty. The inheritance pattern is particular being the MKRN3 a maternal imprinted gene. Moreover in a recent genome wide association study common intronic or intragenic variants harbouring this gene and other two imprinted genes, D...

hrp0086rfc12.5 | Neuroendocrinology | ESPE2016

A Novel MKRN3 Nonsense Mutation Causing Familial Central Precocious Puberty

Christoforidis Athanasios , Skordis Nicos , Fanis Pavlos , Dimitriadou Meropi , Sevastidou Maria , Phelan Marie M. , Neocleous Vassos , Phylactou Leonidas A.

Background: The onset of puberty is influenced by the interplay of stimulating and restraining factors, many of which have a genetic origin. Premature activation of the GnRH secretion in central precocious puberty (CPP) may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.Objective and hypotheses: Explore the genetic cau...

hrp0086rfc12.6 | Neuroendocrinology | ESPE2016

Serum Antimüllerian Hormone and Inhibin B as Potential Markers for Progressive Central Precocious Puberty in Girls

Chen Ting , Chen Linqi , Wu Haiying , Xie Rongrong , Chen Xiuli

Background: Anti-Müllerian hormone (AMH) and inhibin B (INHB) are two hormones investigated as markers of ovarian reserve in female. serum AMH and INHB levels change through the progression of puberty, and might be markers for identifying pubertal progression rate in girls.Objective and hypotheses: To invetigate serum AMH and INHB levels as markers of pubertal progression rate in girls with central precocious puberty (CPP).Met...

hrp0086rfc12.7 | Neuroendocrinology | ESPE2016

Prevalence of Organic Lesions in Males with Central Precocious Puberty

Pedicelli Stefania , De Matteis Sara , Scire Giuseppe , Cappa Marco , Cianfarani Stefano

Background: Organic lesions in males with central precocious puberty (CPP) have been reported in 40% of cases. This high prevalence decreases (20–29%) when patients with previously diagnosed alterations of central nervous system (CNS) are excluded. Reported predictors of organic lesions are age at puberty onset, bone age, BMI, LH peak response and testosterone levels.Objective and hypotheses: To determine the prevalence and type of intracranial lesi...

hrp0086rfc12.8 | Neuroendocrinology | ESPE2016

Circulating MKRN3 Levels Decline During Puberty in Healthy Boys

Busch Alexander S. , Hagen Casper P. , Almstrup Kristian , Juul Anders

Background: Initiation and progression of puberty requires concerted action of activating and inhibiting factors. Recently, cases of central precocious puberty have been linked to loss-of-function mutations of makorin RING-finger protein 3 (MKRN3) indicating a pivotal inhibitory role of MKRN3 on GnRH secretion.Objective and hypotheses: To investigate peripubertal circulating MKRN3 levels in healthy boys.Method: Healthy boys (n<...