title: MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism.
abstract: Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of puberty and infertility. Traditionally, it has been considered a life-long condition yet cases of reversibility have been described wherein patients spontaneously recover function of the reproductive axis following treatment. Reversibility occurs in both male and female CHH cases and appears to be more common (~10-15%) than previously thought. These reversal patients span a range of GnRH deficiency from mild to severe and many reversal patients harbor mutations in genes underlying CHH. However, to date there are no clear factors for predicting reversible CHH. Importantly, recovery of reproductive axis function may not be permanent. Thus, CHH is not always life-long and the incidence of reversal warrants periodic treatment withdrawal with close monitoring and follow-up. Reversible CHH highlights the importance of environmental (epigenetic) factors such as sex steroid treatment on the reproductive axis in modifying the phenotype. This review provides an overview and an update on what is known about this phenomenon.
authors.affiliation: EndocrinologyDiabetes and Metabolism Service of the Centre Hospitalier Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne, SwitzerlandFaculty of Medicine/PhysiologyUniversity of Helsinki, Helsinki, FinlandThe Children's HospitalHelsinki University Central Hospital (HUCH), Helsinki, FinlandDepartment of PhysiologyFaculty of Biology and Medicine, University of Lausanne, Rue du Bugnon 7, 1005 Lausanne, Switzerland.
authors.forename: Andrew A
authors.initials: AA
authors.lastname: Dwyer
authors.affiliation: EndocrinologyDiabetes and Metabolism Service of the Centre Hospitalier Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne, SwitzerlandFaculty of Medicine/PhysiologyUniversity of Helsinki, Helsinki, FinlandThe Children's HospitalHelsinki University Central Hospital (HUCH), Helsinki, FinlandDepartment of PhysiologyFaculty of Biology and Medicine, University of Lausanne, Rue du Bugnon 7, 1005 Lausanne, Switzerland EndocrinologyDiabetes and Metabolism Service of the Centre Hospitalier Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne, SwitzerlandFaculty of Medicine/PhysiologyUniversity of Helsinki, Helsinki, FinlandThe Children's HospitalHelsinki University Central Hospital (HUCH), Helsinki, FinlandDepartment of PhysiologyFaculty of Biology and Medicine, University of Lausanne, Rue du Bugnon 7, 1005 Lausanne, Switzerland.
authors.forename: Taneli
authors.initials: T
authors.lastname: Raivio
authors.affiliation: EndocrinologyDiabetes and Metabolism Service of the Centre Hospitalier Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne, SwitzerlandFaculty of Medicine/PhysiologyUniversity of Helsinki, Helsinki, FinlandThe Children's HospitalHelsinki University Central Hospital (HUCH), Helsinki, FinlandDepartment of PhysiologyFaculty of Biology and Medicine, University of Lausanne, Rue du Bugnon 7, 1005 Lausanne, Switzerland EndocrinologyDiabetes and Metabolism Service of the Centre Hospitalier Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne, SwitzerlandFaculty of Medicine/PhysiologyUniversity of Helsinki, Helsinki, FinlandThe Children's HospitalHelsinki University Central Hospital (HUCH), Helsinki, FinlandDepartment of PhysiologyFaculty of Biology and Medicine, University of Lausanne, Rue du Bugnon 7, 1005 Lausanne, Switzerland nelly.pitteloud@chuv.ch.
authors.forename: Nelly
authors.initials: N
authors.lastname: Pitteloud
mesh_terms: D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000503:physiopathology*; D008297:Male; D020127:Recovery of Function / Q000502:physiology*; D012075:Remission, Spontaneous