How to explore... congenital isolated hypogonadotrophic hypogonadism;Comment J'explore... un hypogonadisme hypogonadotrope congénital isolé

Revue Medicale de Liege

Volumn 65, Issue 11, 2010, Pages 634-641

  Valdes Socin, H ^a   Debray, F G ^a   Parent, A S ^a   Lebrethon, M C ^a   Bourguignon, J P ^a   Bours, V ^a   Beckers, A ^a  

^a UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

Genetics; Gonadotrophins; Hypogonadotrophic hypogonadism; Kallmann syndrome

Indexed keywords

ANOSMINE 1; CHROMODOMAIN HELICASE DNA BINDING PROTEIN 7; FIBROBLAST GROWTH FACTOR 8; FIBROBLAST GROWTH FACTOR RECEPTOR 1; FOLLITROPIN; G PROTEIN COUPLED RECEPTOR 54; GONADORELIN; GONADORELIN RECEPTOR; LUTEINIZING HORMONE; PROKINECITIN 2; PROKINECITIN 2 RECEPTOR; PROTEIN; TACHYKININ RECEPTOR 3; UNCLASSIFIED DRUG;

CHROMOSOME 10Q; CHROMOSOME 11P; CHROMOSOME 19P; CHROMOSOME 20P; CHROMOSOME 3P; CHROMOSOME 4Q; CHROMOSOME 8P; CHROMOSOME 8Q; CHROMOSOME XP; EARLY DIAGNOSIS; GENE LOCUS; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME; PHENOTYPIC VARIATION; REVIEW; SEX DIFFERENCE;

DIAGNOSIS, DIFFERENTIAL; GENETIC COUNSELING; HUMANS; HYPOGONADISM;

EID: 78650343221     PISSN: 00353663     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (22)

1. Semple RK, Kemal Topaloglu A.- The recent genetics of hypogonadotrophic hypogonadism. novel insights and new questions. Clin Endocrinol (Oxf), 2009, Epub ahead of print.
2. Grumbach MM.- A window of opportunity: the diagnosis of gonadotropin deficiency in the male infant. J Clin Endocrinol Metab, 2005, 90, 3122-3127.
3. Lebrethon MC.- Bourguignon Recent aspects of neuroendocrine mechanisms of puberty. Arch Pediatr, 2002, 9, 226s-228s.
4. Feldman KW, Smith DW.- Fetal phallic growth and penile standards for newborn male infants. J Pediatr, 1975, 86, 395-398.
5. Online Mendelian Inheritance in Man.- Johns Hopkins University. www.ncbi.nlm.nih.gov/omim.
6. Pitteloud N, Meysing A, Quinton R, et al.- Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol, 2006, 25, 254-255.
7. Delahaye A, Sznajer Y, Lyonnet S, et al.- Familial CHARGE syndrome because of CHD7 mutation : clinical intra- and interfamilial variability. Clin Genet, 2007, 72, 112-121. (Pubitemid 47262081)
8. Falardeau J, Chung WC, Beenken A, et al.- Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J Clin Invest, 2008, 118, 2822-2831.
9. Sedlmeyer IL, Hirschhorn JN, Palmert MR.- Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. J Clin Endocrinol Metab, 2002, 87, 5581-5586.
10. Bouligand J, Ghervan C, Tello JA, et al.- Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. N Engl J Med, 2009, 360, 2742-2748.
11. Karges B, Karges W, de Roux N.- Clinical and molecular genetics of the human GnRH receptor. Hum Reprod Update, 2003, 9, 523-530.
12. Seminara SB, Messager S, Chatzidaki EE, et al.- The GPR54 gene as a regulator of puberty. N Engl J Med, 2003, 349, 1614-1627.
13. d'Anglemont de Tassigny X, Fagg LA, Dixon JPC, et al.- Hypogonadotropic hypogonadism in mice lacking a functional Kiss1 gene. Proc Nat Acad Sci, 2007, 104, 10714-10719.
14. Topaloglu AK, Reimann F, Guclu M, et al.- TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in the central control of reproduction. Nature Genet, 2009, 41, 354-358.
15. Pasqualini RQ, Bur GE.- Sindrome hipoandrogénico con gametogénesis conservada : clasificación de la insuficiencia testicular. Rev Asoc Med Argent, 1950, 64, 15-30.
16. Weiss J, Axelrod L, Whitcomb RW, et al.- Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone. New Engl J Med, 1992, 326, 179-183.
17. Lofrano-Porto A, Barra GB, Giacomini LA, et al.- Luteinizing hormone beta mutation and hypogonadism in men and women. N Engl J Med, 2007, 357, 897-904.
18. Valdes-Socin H, Salvi R, Daly AF, et al.- Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene. N Engl J Med, 2004, 351, 2619-2625. (Pubitemid 39628583)
19. Valdes-Socin H, Salvi R, Thiry A, et al.- Testicular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment. J Clin Endocrinol Metab, 2009, 94, 3-4.
20. Daly AF, Salvi R, Thiry A, et al.- Identification of a family harboring a novel LH β mutation associated with hypogonadism. Presented at the Endocrine Society, Boston June 24-27, 2006. Abstract
21. Achard C, Courtillot C, Lahuna O, et al.- Normal spermatogenesis in a man with mutant luteinizing hormone. N Engl J Med, 2009, 361, 1856-63.
22. Lindstedt G, Nyström E, Matthews C, et al.- Follitropin (FSH) deficiency in an infertile male due to FSH beta gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations. Clin Chem Lab Med,1998, 36, 663-665.