Scientific conference in universities or research centers (Scientific conferences in universities or research centers)
Hypogonadisme génétique masculin: diagnostic et prise en charge
VALDES SOCIN, Hernan Gonzalo
2014
 

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Keywords :
male hypogoandism; pasqualini syndrome; fertile eunuch; kallmann syndrome; del castillo syndrome; sertoli only cell syndrome
Abstract :
[en] The neuroendocrine control of reproduction in mammals is governed by a hypothalamic neural network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the reproductive axis across life. Congenital Hypogonadotropic hypogonadism (HH) is a clinical syndrome that is characterized by partial or complete pubertal failure. HH may result from inadequate hypothalamic GnRH axis activation, or a failure of pituitary gonadotropin secretion/effects. In man, several genes that participate in olfactory and GnRH neuronal migration are thought to interact during the embryonic life. A growing list of mutations of these genes is responsible for congenital HH. Based on the presence or the absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations (Kallmann syndrome) and Idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH). Kallmann syndrome (KS) is a heterogeneous disorder affecting 1 in 5000 to 8000 males, with a 3-5 fold male excess over female. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1 and WDR11 genes that are related to defects in neuronal migration. These reproductive and olfactory deficits include a variable non reproductive phenotype, including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities and/or renal agenesis. Interestingly, defects in PROKR2, FGFR1, FGF8, CHD7 and WDR11 genes are also associated with normosmic IHH, whereas mutations in KISS1/KISSR, TAC3/TACR3, GNRH1/GNRHR, βFSH and βLH are only present in patients with normosmic IHH. βLH mutations are responsible for Pasqualini 's Syndrome (fertile eunuch) first described in 1950 in males with eunuchoidism, hypoandrogenism and spermatogenesis in testis biopsies. Congenital primary hypogonadism include several genetic syndromes such as Klinefelter syndrome (XXY), Del Castillo syndrome (only sertoli syndrome).In this lecture, we summarize the reproductive, neurodevelopmental and genetic aspects of IHH and primary hypogonadism in human pathology.
Disciplines :
Endocrinology, metabolism & nutrition
Author, co-author :
VALDES SOCIN, Hernan Gonzalo  ;  Centre Hospitalier Universitaire de Liège - CHU > Endocrinologie clinique
Language :
French
Title :
Hypogonadisme génétique masculin: diagnostic et prise en charge
Alternative titles :
[en] Male genetic hypogonadism: diagnosis and treatment
Publication date :
05 December 2014
Event name :
DES Endocrinologie
Event organizer :
Prod Albert BECKERS
Event place :
Liege, Belgium
Event date :
vendredi 5 decembre 2014
Commentary :
references: Pasqualini RQ, Bur GE. Síndrome hipoandrogénico con gametogénesis conservada: clasificación de la insuficiencia testicular. (1950) Rev Asoc Med Argent 64: 15-30 Valdes-Socin H, Salvi R, Thiry A, Daly AF, Pralong FP, Gaillard R, Beckers A. Testicular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment J Clin Endocrinol Metab. 2009 Jan;94(1):3-4. doi: 10.1210/jc.2008-1584. Valdes-Socin H, Salvi R, Daly AF, Gaillard RC, Quatresooz P, Tebeu PM, Pralong FP, Beckers A. Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene. N Engl J Med. 2004 Dec 16;351(25):2619-25. VALDES SOCIN, H. G, Cavalier, E, beckaert, A. C, Carlisi, A, Chavez, M, & Beckers, A. (2011). Elévation des kisspeptines plasmatiques chez les hommes obèses avec hypogonadisme acquis et chez les hommes avec hypogonadisme congénital : Etude pilote des modifications plasmatiques des kisspeptines avant et après administration de hCG et testostérone. Annales d'Endocrinologie - 28ème congrès de la société Française d'Endocrinologie. H Valdes-Socin , E Cavalier, AC Beckaert, A Carlisi, A Beckers. Kisspeptin-10 élevée chez les hommes obèses hypogonadiques : un nouveau signal périphérique entre le métabolisme et la reproduction ? Oral Communication. Abstract book. ENEA (Liège) 2010. H. Valdes-Socin , F.G. Debray, A.S. Parent , M.C. Lebrethon, J.P. Bourguignon , V. Bours , A. Beckers Comment diagnostiquer un hypogonadisme hypogonadotrope congénital isolé? Rev Med Liège 2010; 65 : 5-6
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