Phenotypic variation of SF1 gene mutations

Advances in Experimental Medicine and Biology

Volumn 707, Issue , 2011, Pages 67-72

  Philibert, Pascal ^d   Paris, Françoise ^d   Audran, Françoise ^d   Kalfa, Nicolas ^d   Polak, Michel ^d   Thibaud, Elisabeth ^d   Pinto, Graziella ^d   Houang, Muriel ^d   Zenaty, Delphine ^d   Leger, Juliane ^d   Mas, Jean Christophe ^d   Pienkowski, Catherine ^d   Einaudi, Silvia ^d   Damiani, Durval ^d   Ten, Svetlana ^d   Sinha, Sunil ^d   Poulat, Francis ^d   Sultan, Charles ^a,b,c  

^a LAPEYRONIE HOSPITAL   (France)

^b INSTITUTE OF HUMAN GENETICS   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANORCHIA; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GONADAL DYSGENESIS; HETEROZYGOSITY; HUMAN; KARYOTYPE 46,XY; MALE; MICROPENIS; MUTATIONAL ANALYSIS; PENILE LENGTH; PENIS; PHENOTYPIC VARIATION; PRIMARY AMENORRHEA; PRIORITY JOURNAL; SERTOLI CELL; SEX DIFFERENTIATION DISORDER; STEROIDOGENIC FACTOR 1 GENE; TESTIS; TRANSACTIVATION; VANISHING TESTIS;

COHORT STUDIES; HUMANS; MUTATION; PHENOTYPE; STEROIDOGENIC FACTOR 1;

MUS;

EID: 79960706526     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-8002-1_16     Document Type: Article

References (16)

1. Sadovsky, Y., Crawford, P. A., Woodson, K. G., Polish, J. A., Clements, M. A., Tourtellotte, L. M., Simburger, K. & Milbrandt, J. (1995) Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express p450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids. Proc Natl Acad Sci USA, 92, 10939-10943.
2. Achermann, J. C. (2005) The role of sf1/dax1 in adrenal and reproductive function. Ann Endocrinol (Paris), 66, 233-239. (Pubitemid 40705339)
3. Lin, L. & Achermann, J. C. (2008) Steroidogenic factor-1 (sf-1, ad4bp, nr5a1) and disorders of testis development. Sex Dev, 2, 200-209.
4. Parker, K. L., Rice, D. A., Lala, D. S., Ikeda, Y., Luo, X., Wong, M., Bakke, M., Zhao, L., Frigeri, C., Hanley, N. A., Stallings, N. & Schimmer, B. P. (2002) Steroidogenic factor 1: An essential mediator of endocrine development. Recent Prog Horm Res, 57, 19-36.
5. de-Souza, B. F., Lin, L. & Achermann, J. C. (2006) Steroidogenic factor-1 (sf-1) and its relevance to pediatric endocrinology. Pediatr Endocrinol Rev, 3, 359-364. (Pubitemid 44014046)
6. Achermann, J. C., Ito, M., Hindmarsh, P. C. & Jameson, J. L. (1999) A mutation in the gene encoding steroidogenic factor-1 causes xy sex reversal and adrenal failure in humans. Nat Genet, 22, 125-126. (Pubitemid 29264799)
7. Hasegawa, T., Fukami,M., Sato, N., Katsumata, N., Sasaki, G., Fukutani, K., Morohashi, K. & Ogata, T. (2004) Testicular dysgenesis without adrenal insufficiency in a 46,xy patient with a heterozygous inactive mutation of steroidogenic factor-1. J Clin Endocrinol Metab, 89, 5930-5935. (Pubitemid 39628395)
8. Kohler, B., Lin, L., Ferraz-de-Souza, B., Wieacker, P., Heidemann, P., Schroder, V., Biebermann, H., Schnabel, D., Gruters, A. & Achermann, J. C. (2008) Five novel mutations in steroidogenic factor 1 (sf1, nr5a1) in 46,xy patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat, 29, 59-64.
9. Lin, L., Philibert, P., Ferraz-de-Souza, B., Kelberman, D., Homfray, T., Albanese, A., Molini, V., Sebire, N. J., Einaudi, S., Conway, G. S., Hughes, I. A., Jameson, J. L., Sultan, C., Dattani, M. T. & Achermann, J. C. (2007) Heterozygous missense mutations in steroidogenic factor 1 (sf1/ad4bp, nr5a1) are associated with 46,xy disorders of sex development with normal adrenal function. J Clin Endocrinol Metab, 92, 991-999. (Pubitemid 46465674)
10. Tajima, T., Fujiwara, F. & Fujieda, K. (2009) A novel heterozygous mutation of steroidogenic factor-1 (sf-1/ad4bp) gene (nr5a1) in a 46, xy disorders of sex development (dsd) patient without adrenal failure. Endocr J, 56, 619-624.
11. Kohler, B., Lin, L., Mazen, I., Cetindag, C., Biebermann, H., Akkurt, I., Rossi, R., Hiort, O., Gruters, A. & Achermann, J. C. (2009) The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (sf-1, nr5a1, ad4bp) includes severe penoscrotal hypospadias in 46,xy males without adrenal insufficiency. Eur J Endocrinol, 161, 237-242.
12. Lourenco, D., Brauner, R., Lin, L., De Perdigo, A., Weryha, G., Muresan, M., Boudjenah, R., Guerra-Junior, G., Maciel-Guerra, A. T., Achermann, J. C., McElreavey, K. & Bashamboo, A. (2009) Mutations in nr5a1 associated with ovarian insufficiency. N Engl J Med, 360, 1200-1210.
13. Wada, Y., Okada, M., Hasegawa, T. & Ogata, T. (2005) Association of severe micropenis with gly146ala polymorphism in the gene for steroidogenic factor-1. Endocr J, 52, 445-448. (Pubitemid 41380554)
14. Wada, Y., Okada, M., Fukami, M., Sasagawa, I. & Ogata, T. (2006) Association of cryptorchidism with gly146ala polymorphism in the gene for steroidogenic factor-1. Fertil Steril, 85, 787-790. (Pubitemid 43261589)
15. Philibert, P., Leprieur, E., Zenaty, D., Thibaud, E., Polak, M., Frances, A. M., Lespinasse, J., Raingeard, I., Servant, N., Audran, F., Paris, F. & Sultan, C. (2010) Steroidogenic factor-1 (sf-1) gene mutation as a frequent cause of primary amenorrhea in 46,xy female adolescents with low testosterone concentration. Reprod Biol Endocrinol, 8, 28.
16. Philibert, P., Zenaty, D., Lin, L., Soskin, S., Audran, F., Leger, J., Achermann, J. C.&Sultan, C. (2007) Mutational analysis of steroidogenic factor 1 (nr5a1) in 24 boys with bilateral anorchia: A French collaborative study. Hum Reprod, 22, 3255-3261. (Pubitemid 351696772)