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Anna-Pauliina Iivonen, Johanna Känsäkoski, Kirsi Vaaralahti and Taneli Raivio

Introduction Congenital hypogonadotropic hypogonadism (cHH) is a rare genetic disease that prevents pubertal development and causes infertility due to deficient secretion or action of gonadotropin-releasing hormone (GnRH) ( 1 ). Congenital

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Catarina I Gonçalves, José M Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho and Manuel C Lemos

Introduction Congenital hypogonadotropic hypogonadism (CHH) is characterised by partial or complete lack of pubertal development, secondary to deficient gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion ( 1 ). Diagnosis is

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Mikkel Andreassen, Anders Juul, Ulla Feldt-Rasmussen and Niels Jørgensen

in humans, although some controversy exists ( 1 , 2 ). Through negative feedback, testosterone is the predominant regulator of LH, whereas inhibin b is the predominant regulator of FSH ( 2 ). Congenital hypogonadotropic hypogonadism (CHH) is

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Rui-yi Tang, Rong Chen, Miao Ma, Shou-qing Lin, Yi-wen Zhang and Ya-ping Wang

Introduction Idiopathic hypogonadotropic hypogonadism (IHH) is also known as congenital hypogonadotropic hypogonadism. This rare clinically and genetically heterogeneous disorder is characterized by complete or partial pubertal failure, which

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Shota Dzemaili, Jitske Tiemensma, Richard Quinton, Nelly Pitteloud, Diane Morin and Andrew A Dwyer

maintaining the reproductive capacity ( 2 ). Acquired GnRH deficiency (i.e. hypothalamic amenorrhea) is a common cause of secondary amenorrhea that is reversible ( 3 ). More severe forms of GnRH deficiency, such as congenital hypogonadotropic hypogonadism (CHH

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Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani and Maria Teresa Bonati

association between TBX3 variants with isolated hypogonadotropic hypogonadism (IHH), signs of hypogonadism, including bilateral cryptorchidism, micropenis and delayed puberty, have been repeatedly reported among patients with UMS ( 3 , 4 , 5 , 6 , 7 , 8

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M I Stamou, P Varnavas, L Plummer, V Koika and N A Georgopoulos

function and (iii) no neuroanatomic or functional cause of hypogonadotropic hypogonadism. A total of 87 probands participated in this study. Forty-five patients were seen in the Department of Reproductive Endocrinology of the University of Patras and 42

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Alessandra Gambineri and Carla Pelusi

and FSH concentrations ( 21 , 22 ). This condition has been recently defined as functional hypogonadism characterized by hormonal levels compatible with hypogonadotropic hypogonadism, a normal response of LH and FSH to GnRH stimulus, and no abnormal

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Agnieszka Pazderska, Yaasir Mamoojee, Satish Artham, Margaret Miller, Stephen G Ball, Tim Cheetham and Richard Quinton

Not imaged Not imaged Normal Not imaged Preliminary data on patients 1, 4 and 6 were presented in: Santhakumar, A., Miller, M., Quinton, R. Pubertal induction in adult males with isolated hypogonadotropic hypogonadism using long

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Bruno Donadille, Muriel Houang, Irène Netchine, Jean-Pierre Siffroi and Sophie Christin-Maitre

cryptorchidism is known to be directly related to altered sperm production, as described in patients with hypogonadotropic hypogonadism ( 26 ). A second hypothesis relies on the fact that Burckhardt’s patient had a severe syndrome including psychomotor