Japanese familial patients with male-limited precocious puberty

Endocrine Journal

Volumn 47, Issue 6, 2000, Pages 777-782

  Shinagawa, Takashi ^a   Katsumata, Noriyuki ^a   Sato, Naoko ^a   Horikawa, Reiko ^b   Tanae, Ayako ^b   Tanaka, Toshiaki ^a  

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

^b NATIONAL CHILDREN S HOSPITAL   (Japan)

Author keywords

Constitutively activating mutation; Familial male limited precocious puberty (FMPP); Luteinizing hormone receptor (LH R); Phenotypic heterogeneity

Indexed keywords

LUTEINIZING HORMONE RECEPTOR;

ADULT; ARTICLE; CASE REPORT; FAMILIAL DISEASE; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HORMONE RELEASE; HUMAN; JAPAN; MALE; MULTIGENE FAMILY; PRECOCIOUS PUBERTY; RECEPTOR GENE; SEX LIMITATION;

EID: 0034509708     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.47.777     Document Type: Article

References (17)

1. Gonadotropin-independent precocious puberty
2. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
3. Cosegregation of missense mutations in the luteinizing hormone receptor gene with familial male-limited precocious puberty
4. Sporadic testotoxicosis in Japanese children: Report of 4 cases
5. A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases
6. A new constitutively activating mutation in the luteinizing hormone/ choriogonadotropin receptor gene in cases of malelimited precocious puberty
7. A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene
8. Japanese specific bone age standard on the TW2
9. A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty
10. Characterization of heterozygous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty
11. Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty
12. Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty
13. Identification of constitutively activating mutation of the luteinizing hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis)
14. A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty
15. A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty
16. A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: Genotype does not always correlate with phenotype