TY - JOUR

T1 - Expert consensus document

T2 - European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

AU - Boehm, Ulrich

AU - Bouloux, Pierre-Marc

AU - Dattani, Mehul T

AU - de Roux, Nicolas

AU - Dodé, Catherine

AU - Dunkel, Leo

AU - Dwyer, Andrew A

AU - Giacobini, Paolo

AU - Hardelin, Jean-Pierre

AU - Juul, Anders

AU - Maghnie, Mohamad

AU - Pitteloud, Nelly

AU - Prevot, Vincent

AU - Raivio, Taneli

AU - Tena-Sempere, Manuel

AU - Quinton, Richard

AU - Young, Jacques

PY - 2015/9

Y1 - 2015/9

N2 - 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.

AB - 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.

KW - Consensus

KW - Europe

KW - Female

KW - Gonadotropin-Releasing Hormone

KW - Humans

KW - Hypogonadism

KW - Male

KW - Sexual Maturation

U2 - 10.1038/nrendo.2015.112

DO - 10.1038/nrendo.2015.112

M3 - Comment/debate

C2 - 26194704

VL - 11

SP - 547

EP - 564

JO - Nature Reviews Endocrinology

JF - Nature Reviews Endocrinology

SN - 1759-5029

IS - 9

ER -