A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin-independent precocious puberty [2]

Clinical Endocrinology

Volumn 65, Issue 3, 2006, Pages 408-410

  D'Alva, Catarina B ^a   Brito, Vinicius N ^a   Palhares, Heloisa M C ^b   Carvalho, Filomena M ^a   Arnhold, Ivo J P ^a   Mendonca, Berenice B ^a   Latronico, Ana Claudia ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF TRIÂNGULO MINEIRO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; GONADOTROPIN; HISTIDINE; LUTEINIZING HORMONE RECEPTOR;

ADENOMA; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE COURSE; DNA EXTRACTION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; HUMAN; LETTER; LEYDIG CELL TUMOR; MALE; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; TESTIS TUMOR;

CHILD; HUMANS; LEYDIG CELL TUMOR; MALE; POINT MUTATION; PUBERTY, PRECOCIOUS; RECEPTORS, LH; TESTICULAR NEOPLASMS;

EID: 33747360691     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2006.02596.x     Document Type: Letter

References (5)

1. Liu, G., Duranteau, L., Carel, J.C., Monroe, J., Doyle, D.A. & Shenker, A. (1999) Leydig cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. New England Journal of Medicine, 341, 1731-1736.
2. Richter-Unruh, A., Wessels, H.T., Menken, U., Bergmann, M., Schmittmann-Ohters, K., Schaper, J., Tappeser, S. & Hauffa, B.P. (2002) Male LH-independent sexual precocity in a 3.5-year-old boy caused by a somatic activating mutation of the LH receptor in a Leydig cell tumor. Journal of Clinical Endocrinology and Metabolism, 87, 1052-1056.
3. Canto, P., Soderlung, D., Ramón, G., Nishimura, E. & Méndez, J.P. (2002) Mutational analysis of the luteinizing hormone receptor in two individuals with Leydig cell tumors. American Journal of Medical Genetics, 108, 148-152.
4. Richter-Unruh, A., Jorch, N., Wessels, H.T., Weber, E.A. & Hauffa, B.P. (2002) Venous sampling can be crucial in identifying the testicular origin of idiopathic male luteinizing hormone-independent sexual precocity. European Journal of Pediatrics, 161, 668-671.
5. Giacaglia, L.R., Kohek, M.B., Carvalho, F.M., Fragoso, M.C., Mendonca, B.B. & Latronico, A.C. (2000) No evidence of somatic activating mutations on gonadotropin receptor genes in sex cord stromal tumors. Fertility and Sterility, 74, 992-995.