Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene

Autor: Laura Marino, Andrea Messina, James S Acierno Jr, Franziska Phan-Hug, Nicolas J Niederländer, Federico Santoni, Stefano La Rosa, Nelly Pitteloud

Publikováno v: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2021)

Complete androgen-insensitivity syndrome (CAIS), a disorder of sex development (46,XY DSD), is caused primarily by mutations in the androgen receptor (AR). Gonadectomy is recommended due to the increased risk of gonadoblastoma, however, surgical inte

Externí odkaz: https://doaj.org/article/4f68675304cd45299f91c83446bae57f

Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome

Autor: Bénédicte Decoudier, Brigitte Delemer, Mohamad Zalzali, Jean-Claude Mérol, Andrew A. Dwyer, Brigitte Higel-Chaufour, Céline Poirsier-Violle, Florent Grange, Robert P. Millar, Sara Barraud, James S Acierno, Jacques Young, Jérôme Bouligand, Nelly Pitteloud

Publikováno v: Neuroendocrinology. 111:99-114

Background: Two loci (CHD7 and SOX10) underlying Kallmann syndrome (KS) were discovered through clinical and genetic analysis of CHARGE and Waardenburg syndromes, conditions that include congenital anosmia caused by olfactory bulb (CA/OBs) defects an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4e569165bf7521c47db162c8997afbf0
https://doi.org/10.1159/000506640

Clinical Management of Congenital Hypogonadotropic Hypogonadism

Autor: Jacques Young, Cheng Xu, Taneli Raivio, Nelly Pitteloud, Georgios Papadakis, James S Acierno, Johanna Hietamäki, Luigi Maione

Publikováno v: Endocrine Reviews. 40:669-710

The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results from the failure of the normal epis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f80c30f4c3aa6858c67e0e4cd2008448
https://doi.org/10.1210/er.2018-00116

Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene

Autor: Franziska Phan-Hug, James S Acierno, Nicolas J Niederländer, Andrea Messina, Federico Santoni, Nelly Pitteloud, Stefano La Rosa, Laura Marino

Publikováno v: Endocrinology, Diabetes & Metabolism Case Reports
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2021)
Endocrinology, diabetes & metabolism case reports, vol. 2021, no. 1

Summary Complete androgen-insensitivity syndrome (CAIS), a disorder of sex development (46,XY DSD), is caused primarily by mutations in the androgen receptor (AR). Gonadectomy is recommended due to the increased risk of gonadoblastoma, however, surgi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d4401ce2431e9e05beaac99d9443d52
http://hdl.handle.net/11383/2119897

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

Autor: Andrew A. Dwyer, Cheng Xu, Federico Santoni, Samuel A. Malone, Gaetan Ternier, Nicolas J Niederländer, Taneli Raivio, Sara Santini, Daniele Conte, Johanna Tommiska, Filippo Casoni, Kristiina Pulli, Daniele Cassatella, Andrea Messina, Nelly Pitteloud, Johanna Känsäkoski, Giorgio R. Merlo, Yoav Gothilf, Kirsi Vaaralahti, Yisrael Sidis, James S. Acierno, Paolo Giacobini

Publikováno v: Am J Hum Genet

Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by infertility and the absence of puberty. Defects in GnRH neuron migration or altered GnRH secretion and/or action lead to a severe gonadotropin-releasing hormon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::389f39ff315ce6f9494670ffba8a9ff0