Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother

Hormone Research in Paediatrics

Volumn 73, Issue 6, 2010, Pages 477-481

  Fukami, Maki ^a   Maruyama, Tetsuo ^b   Dateki, Sumito ^a   Sato, Naoko ^a   Yoshimura, Yasunori ^b   Ogata, Tsutomu ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Heterozygous manifestation; Hypogonadotropic hypogonadism; Hypothalamus; TACR3 mutation

Indexed keywords

COMPLEMENTARY DNA; CORTICOTROPIN; ESTRADIOL; ESTROGEN; FOLLITROPIN; G PROTEIN COUPLED RECEPTOR; GONADORELIN; LUTEINIZING HORMONE; NEUROPEPTIDE; PROGESTERONE; PROLACTIN; PROTEIN TAC3; PROTEIN TACR3; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRAIN; BREAST DEVELOPMENT; CASE REPORT; DELAYED PUBERTY; EXON; FATHER; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GONADORELIN TEST; HETEROZYGOSITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOPHYSIS; HYPOTHALAMUS; HYPOTHALAMUS DISEASE; INTRON; JAPANESE; MOTHER; NONSENSE MUTATION; OVARY; PLACENTA; PRIMARY AMENORRHEA; PRIORITY JOURNAL; STOP CODON;

DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; HYPOGONADISM; HYPOTHALAMUS; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; RECEPTORS, NEUROKININ-3; YOUNG ADULT;

EID: 77952309369     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000313373     Document Type: Article

References (13)

1. Achermann JC, Hughes IA: Disorders of sex development; in Kronenberg HM, Melmed M, Polonsky KS, Larsen PR (eds): Williams Textbook of Endocrinology, ed 11. Philadelphia, Saunders, 2008, pp 783-848.
2. Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK: TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in the central control of reproduction. Nat Genet 2009; 41: 354-358.
3. Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble FM, Kotan LD, Akcay T, Atay Z, Canan H, Serin A, O'Rahilly S, Reimann F, Semple RK, Topaloglu AK: Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor. J Clin Endocrinol Metab 2009; 94: 3633-3639.
4. Almeida TA, Rojo J, Nieto PM, Pinto FM, Hernandez M, Martín JD, Candenas ML: Tachykinins and tachykinin receptors: structure and activity relationships. Curr Med Chem 2004; 11: 2045-2081. (Pubitemid 38967729)
5. Kuzmiak HA, Maquat LE: Applying nonsense- mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 2006; 12: 306-316.
6. Koutcherov Y, Ashwell KW, Paxinos G: The distribution of the neurokinin B receptor in the human and rat hypothalamus. Neuroreport 2000; 11: 3127-3131.
7. Krajewski SJ, Anderson MJ, Iles-Shih L, Chen KJ, Urbanski HF, Rance NE: Morphologic evidence that neurokinin B modulates gonadotropin-releasing hormone secretion via neurokinin 3 receptors in the rat median eminence. J Comp Neurol 2005; 489: 372-386.
8. Messager S, Chatzidaki EE, Ma D, Hendrick AG, Zahn D, Dixon J, Thresher RR, Malinge I, Lomet D, Carlton MB, Colledge WH, Caraty A, Aparicio SA: Kisspeptin directly stimulates gonadotropin-releasing hormone release via G protein-coupled receptor 54. Proc Natl Acad Sci USA 2005; 102: 1761-1766.
9. Rance NE: Menopause and the human hypothalamus: evidence for the role of kisspeptin/ neurokinin B neurons in the regulation of estrogen negative feedback. Peptides 2009; 30: 111-122.
10. Rometo AM, Krajewski SJ, Voytko ML, Rance NE: Hypertrophy and increased kisspeptin gene expression in the hypothalamic infundibular nucleus of postmenopausal women and ovariectomized monkeys. J Clin Endocrinol Metab 2007; 92: 2744-2750.
11. Bulun SE, Adashi EY: The physiology and pathology of the female reproductive axis; in Kronenberg HM, Melmed M, Polonsky KS, Larsen PR (eds): Williams Textbook of Endocrinology, ed 11. Philadelphia, Saunders. 2008, pp 541-614.
12. Goh HH, Ratnam SS: The LH surge in humans: its mechanism and sex difference. Gynecol Endocrinol 1988; 2: 165-182.
13. Brylla E, Aust G, Geyer M, Uckermann O, Löffler S, Spanel-Borowski K: Coexpression of preprotachykinin A and B transcripts in the bovine corpus luteum and evidence for functional neurokinin receptor activity in luteal endothelial cells and ovarian macrophages. Regul Pept 2005; 125: 125-133.