Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis

Journal of Pediatrics

Volumn 149, Issue 2, 2006, Pages 271-274

  Jeha, George S ^a   Lowenthal, Elizabeth D ^a   Chan, Wai Yee ^a   Wu, Shao Ming ^a   Karaviti, Lefkothea P ^a  

^a TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN RECEPTOR; FLUTAMIDE; LEUPRORELIN; LUTEINIZING HORMONE; SPIRONOLACTONE; TESTOLACTONE; TESTOSTERONE;

ARTICLE; BODY BUILD; BODY HEIGHT; CLINICAL FEATURE; CYTOPLASM; DISEASE SEVERITY; DNA DETERMINATION; DNA SEQUENCE; EXON; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MALE; PHENOTYPE; PHYSICAL EXAMINATION; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEXUAL MATURATION; SIBLING; TESTOSTERONE BLOOD LEVEL; TESTOTOXICOSIS;

BODY HEIGHT; CHILD, PRESCHOOL; CHORIONIC GONADOTROPIN; CYCLIC AMP; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION; GENOTYPE; HUMANS; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; PUBERTY, PRECOCIOUS; RECEPTORS, LHRH; SEVERITY OF ILLNESS INDEX; TESTIS; TESTOSTERONE;

EID: 33746615604     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2006.03.017     Document Type: Article

References (14)

1. Schedewie H.K., Reiter E.O., Beitins I.Z., Seyed S., Wooten V.D., Jimenez J.F., et al. Testicular Leydig cell hyperplasia as a cause of familial sexual precocity. J Clin Endocrinol Metab 52 (1981) 271-278
2. Rosenthal S.M., Grumbach M.M., and Kaplan S.L. Gonadotropin-independent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxicosis). effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases. J Clin Endocrinol Metab 57 (1983) 571-579
3. Reiter E.O., Brown R.S., Longcope C., and Beitins I.Z. Male-limited familial precocious puberty in three generations. Apparent Leydig-cell autonomy and elevated glycoprotein hormone alpha subunit. N Engl J Med 311 (1984) 515-519
4. Soriano-Guillen L., Lahlou N., Chauvet G., Roger M., Chaussain J.L., and Carel J.C. Adult height after ketoconazole treatment in patients with familial male-limited precocious puberty. J Clin Endocrinol Metab 90 (2005) 147-151
5. Sippell W.G., and German/Dutch Central Precocious Puberty Study Group. Diagnosis and treatment of central precocious puberty-can final height be improved. Hormone Res 41suppl 2 (1994) 14-15
6. Rousseau-Merck M.F., Misrahi M., Atger M., Loosfelt H., Milgrom E., and Berger R. Localization of the human luteinizing hormone/choriogonadotropin receptor gene (LHCGR) to chromosome 2p21. Cytogenet Cell Genet 54 (1990) 77-79
7. Shenker A., Laue L., Kosugi S., Merendino Jr. J.J., Minegishi T., and Cutler Jr. G.B. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365 (1993) 652-654
8. Abell A.N., and Segaloff D.L. Evidence for the direct involvement of transmembrane region 6 of the lutropin/choriogonadotropin receptor in activating Gs. J Biol Chem 272 (1997) 14586-14591
9. Laue L., Chan W.Y., Hsueh A.J., Kudo M., Hsu S.Y., Wu S.M., et al. Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci USA 92 (1995) 1906-1910
10. Kremer H., Martens J.W., van Reen M., Verhoef-Post M., Wit J.M., Otten B.J., et al. A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty. J Clin Endocrinol Metab 84 (1999) 1136-1140
11. Leung M.Y., Al-Muslim O., Wu S.M., Aziz A., Inam S., Awadh M., et al. A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia. Am J Med Genet A 130 (2004) 146-153
12. Kosugi S., Van Dop C., Geffner M.E., Rabl W., Carel J.C., Chaussain J.L., et al. Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. Hum Mol Genet 4 (1995) 183-188
13. Lim Y.J., and Low L.C. Familial testotoxicosis in a Chinese family. Eur J Pediatr 153 (1994) 241-244
14. Evans B.A., Bowen D.J., Smith P.J., Clayton P.E., and Gregory J.W. 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. J Med Genet 33 (1996) 143-147