title: Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.
abstract: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which is the master hormone regulating the reproductive axis. CHH is clinically and genetically heterogeneous, with >25 different causal genes identified to date. Clinically, the disorder is characterized by an absence of puberty and infertility. The association of CHH with a defective sense of smell (anosmia or hyposmia), which is found in ∼50% of patients with CHH is termed Kallmann syndrome and results from incomplete embryonic migration of GnRH-synthesizing neurons. CHH can be challenging to diagnose, particularly when attempting to differentiate it from constitutional delay of puberty. A timely diagnosis and treatment to induce puberty can be beneficial for sexual, bone and metabolic health, and might help minimize some of the psychological effects of CHH. In most cases, fertility can be induced using specialized treatment regimens and several predictors of outcome have been identified. Patients typically require lifelong treatment, yet ∼10-20% of patients exhibit a spontaneous recovery of reproductive function. This Consensus Statement summarizes approaches for the diagnosis and treatment of CHH and discusses important unanswered questions in the field.
authors.affiliation: University of Saarland School of Medicine, Germany.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Boehm
authors.affiliation: University College London, UK.
authors.forename: Pierre-Marc
authors.initials: PM
authors.lastname: Bouloux
authors.affiliation: University College London, UK.
authors.forename: Mehul T
authors.initials: MT
authors.lastname: Dattani
authors.affiliation: Université Paris Diderot, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: de Roux
authors.affiliation: Université Paris Descartes, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Dodé
authors.affiliation: William Harvey Research Institute, UK.
authors.forename: Leo
authors.initials: L
authors.lastname: Dunkel
authors.affiliation: Endocrinology, Diabetes and Metabolism Sevice of the Centre Hospitalier Universitaire Vaudois (CHUV), du Bugnon 46, Lausanne 1011, Switzerland.
authors.forename: Andrew A
authors.initials: AA
authors.lastname: Dwyer
authors.affiliation: University of Lille, France.
authors.forename: Paolo
authors.initials: P
authors.lastname: Giacobini
authors.affiliation: Institut Pasteur, France.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Hardelin
authors.affiliation: University of Copenhagen, Denmark.
authors.forename: Anders
authors.initials: A
authors.lastname: Juul
authors.affiliation: University of Genova, Italy.
authors.forename: Mohamad
authors.initials: M
authors.lastname: Maghnie
authors.affiliation: Endocrinology, Diabetes and Metabolism Sevice of the Centre Hospitalier Universitaire Vaudois (CHUV), du Bugnon 46, Lausanne 1011, Switzerland.
authors.forename: Nelly
authors.initials: N
authors.lastname: Pitteloud
authors.affiliation: University of Lille, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Prevot
authors.affiliation: University of Helsinki, Finland.
authors.forename: Taneli
authors.initials: T
authors.lastname: Raivio
authors.affiliation: University of Cordoba, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Tena-Sempere
authors.affiliation: Newcastle University, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Quinton
authors.affiliation: Bicêtre Hospital, France.
authors.forename: Jacques
authors.initials: J
authors.lastname: Young
mesh_terms: D032921:Consensus; D005060:Europe; D005260:Female; D007987:Gonadotropin-Releasing Hormone / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000628:therapy*; D008297:Male; D012741:Sexual Maturation
chemical_list: D007987:Gonadotropin-Releasing Hormone