Substitution of M398T in the second transmembrane helix of the LH receptor in a patient with familial male-limited precocious puberty

Endocrine Journal

Volumn 47, Issue 5, 2000, Pages 595-599

  Ignacak, Monika ^a   Hilczer, Maciej ^b   Zarzycki, Janusz ^b   Trzeciak, Wieslaw H ^a  

^a Department of Adult Psychiatry   (Poland)

^b POLISH MOTHER S MEMORIAL HOSPITAL RESEARCH INSTITUTE   (Poland)

Author keywords

LHR; M398T; Male sexual precocity; Substitution

Indexed keywords

LUTEINIZING HORMONE RECEPTOR;

AMINO ACID SUBSTITUTION; ANDROGEN SYNTHESIS; ARTICLE; CASE REPORT; CHILD; HUMAN; LEYDIG CELL; MALE; PRECOCIOUS PUBERTY; SEQUENCE ANALYSIS; STEROIDOGENESIS;

EID: 0033777985     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.47.595     Document Type: Article

References (16)

1. Testicular Leydig cell hyperplasia as a cause of familial sexual precocity
2. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
3. Lutropin-choriogonadotropin receptor: An usual member of the G protein-coupled receptor family
4. Genetic heterogeneity activating mutations of the luteinizing hormone receptor gene in familial male-limited precocious puberty
5. Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty
6. A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty
7. Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty
8. A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty
9. A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty
10. A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty
11. A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene
12. 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
13. A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty
14. Genetic heterogenity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty