A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent

Journal of Pediatric and Adolescent Gynecology

Volumn 27, Issue 2, 2014, Pages 98-101

  Siklar, Zeynep ^a   Berberoǧlu, Merih ^a   Ceylaner, Serdar ^b   Çamtosun, Emine ^a   Kocaay, Pinar ^a   Göllü, Gülnur ^a   Sertçelik, Ayşe ^a   Öcal, Gönül ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b Department of Pediatric Neurology   (Turkey)

Author keywords

Gonadal dysgenesis; Pubertal virilization; Steroidogenic factor 1

Indexed keywords

CORTICOTROPIN; FOLLITROPIN; HYDROCORTISONE; LUTEINIZING HORMONE; PRASTERONE SULFATE; PROGESTERONE; STEROIDOGENIC FACTOR 1; TESTOSTERONE;

ARTICLE; BIOPSY; BREAST DEVELOPMENT; CASE REPORT; CHILD; CLINICAL FEATURE; ECHOGRAPHY; ESTROGEN THERAPY; EXON; FEMALE; FOLLOW UP; GENDER IDENTITY; GENE DELETION; GENE MUTATION; GENETIC TRAIT; GONADECTOMY; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; KARYOTYPE 46,XY; LAPAROSCOPY; LEYDIG CELL; MUTATION RATE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE; PUBERTY; SCHOOL CHILD; STOP CODON; TESTIS ATROPHY; VIRILIZATION;

GONADAL DYSGENESIS; PUBERTAL VIRILIZATION; STEROIDOGENIC FACTOR-1;

CHILD; FEMALE; GENDER IDENTITY; GENETIC TESTING; GONADAL DYSGENESIS, 46,XY; HETEROZYGOTE; HUMANS; MUTATION; STEROIDOGENIC FACTOR 1; VIRILISM;

EID: 84897671165     PISSN: 10833188     EISSN: 18734332     Source Type: Journal    
DOI: 10.1016/j.jpag.2013.06.006     Document Type: Article

References (8)

1. Ferraz-de-Souza B., Lin L., Achermann J.C. Steroidogenic factor-1 (SF-1, NR5A1) and human disease. Mol Cell Endocrinol 2011, 336:198.
2. Warman D.M., Costanzo M., Marino R., et al. Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46, XY subjects and low ovarian reserve in fertile 46, XX subjects. Horm Res Paediatr 2011, 75:70.
3. Cools M., Hoebeke P., Wolffenbuttel K.P., et al. Pubertal androgenization and gonadal histology in two 46, XY adolescents with NR5A1 mutations and predominantly female phenotype at birth. Eur J Endocrinol 2012, 166:341.
4. Lin L., Achermann J.C. Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Sex Dev 2008, 2:200.
5. Masiakos P.T., Flynn C.E., Donahoe P.K. Masculinizing and feminizing syndromes caused by functioning tumors. Semin Pediatr Surg 1997, 6:147.
6. Tantawy S., Lin L., Akkurt I., et al. Testosterone production during puberty in two 46, XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. Eur J Endocrinol 2012, 167:125.
7. Parker K.L., Rice D.A., Lala D.S., et al. Steroidogenic factor 1: an essential mediator of endocrine development. Recent Prog Horm Res 2002, 57:19.
8. Hoivik E.A., Lewis A.E., Aumo L., et al. Molecular aspects of steroidogenic factor 1 (SF-1). Mol Cell Endocrinol 2010, 315:27.