Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2010 Mar 19:8:28.
doi: 10.1186/1477-7827-8-28.

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

Pascal Philibert  1 , Elodie Leprieur, Delphine Zenaty, Elisabeth Thibaud, Michel Polak, Anne-Marie Frances, James Lespinasse, Isabelle Raingeard, Nadège Servant, Françoise Audran, Françoise Paris, Charles Sultan
Affiliations

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

Pascal Philibert et al. Reprod Biol Endocrinol. .

Abstract

Background: Primary amenorrhea due to 46,XY disorders of sex differentiation (DSD) is a frequent reason for consultation in endocrine and gynecology clinics. Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other genes, such as SF1 and WT1, have never been studied for their prevalence.

Methods: We directly sequenced SRY, SF1 and WT1 genes in 15 adolescent girls with primary amenorrhea, low testosterone concentration, and XY karyotype, to determine the prevalence of mutations. We also analyzed the LH receptor gene in patients with high LH and normal FSH concentrations.

Results: Among the 15 adolescents with primary amenorrhea and low testosterone concentration, we identified two new SRY mutations, five new SF1 mutations and one new LH receptor gene mutation. Our study confirms the 10-15% prevalence of SRY mutations and shows the high prevalence (33%) of SF1 abnormalities in primary amenorrhea due to 46,XY DSD with low plasma testosterone concentration.

Conclusions: The genetic analysis of low-testosterone primary amenorrhea is complex as several factors may be involved. This work underlines the need to systematically analyze the SF1 sequence in girls with primary amenorrhea due to 46,XY DSD and low testosterone, as well as in newborns with 46,XY DSD.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Representation of SRY gene (A) and protein (B) showing the localization of mutations identified in adolescents with primary amenorrhea due to 46,XY DSD.
Figure 2
Figure 2
Representation of SF1 gene (A) and protein (B) showing the localization of mutations identified in adolescents with primary amenorrhea due to 46,XY DSD.
Figure 3
Figure 3
Representation of LHCGR gene (A) and protein (B) showing the localization of mutations identified in adolescents with primary amenorrhea due to 46,XY DSD.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Christin-Maitre S, Braham R. [General mechanisms of premature ovarian failure and clinical check-up] Gynecol Obstet Fertil. 2008;36(9):857–861. doi: 10.1016/j.gyobfe.2008.07.003. - DOI - PubMed
    1. Mendonca BB, Domenice S, Arnhold IJ, Costa EM. 46,XY disorders of sex development (DSD) Clin Endocrinol (Oxf) 2009;70(2):173–187. - PubMed
    1. Michala L, Creighton SM. The XY Female. Best Pract Res Clin Endocrinol Metab. 2009. (doi:10.1016/j.bpobgyn.2009.09.009) - PubMed
    1. Hughes IA. Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab. 2008;22(1):119–134. doi: 10.1016/j.beem.2007.11.001. - DOI - PubMed
    1. MacLaughlin DT, Donahoe PK. Sex determination and differentiation. N Engl J Med. 2004;350(4):367–378. doi: 10.1056/NEJMra022784. - DOI - PubMed

MeSH terms

LinkOut - more resources