ESPE Abstracts (2015) 84 P-2-305

ESPE2015 Poster Category 2 DSD (25 abstracts)

‘’: An Online Database of Variants in Steroidogenic Factor 1 (SF-1, NR5A1) and Resource for Families and Professional Healthcare Providers

Jenifer Suntharalingham , Federica Buonocore , Andrew Duncan & John Achermann

UCL Institute of Child Health, London, UK

Background: Steroidogenic factor 1 (SF1), encoded by the gene NR5A1, is a member of the orphan nuclear receptor superfamily and important regulator of gonadal and adrenal function. Variations in SF1 lead to a spectrum of conditions including 46,XY DSD, hypospadias, adrenal insufficiency, male factor infertility, and primary ovarian insufficiency. Inheritance patterns can be complicated (e.g. de novo dominant, sex-limited dominant, and autosomal recessive). Information currently available on SF1 is generally not easily accessible for patients and families or healthcare professionals not working in the field.

Objective and hypotheses: To make available a database of the published variants of SF1 together with general information about SF1 through a website

Method: A systematic review of published mutations in SF1 since 1999 was undertaken using a basic literature search. Information regarding the variant and phenotypic information was entered onto a database. General information about SF1, associated features, inheritance patterns, and key resources was developed as a web-based format.

Results: To date there are 62 primary peer reviewed publications in the SF1 database and more than 100 potentially disease associated variants. These findings have been summarized in a schematic figure to illustrate the amino acid residue variants and conditions associated with them. Approximately two-thirds of SF1 variants are missense changes. There is an emerging clustering of DSD-related changes in the DNA-binding domain and key codons within the ligand-like binding domain, whereas male factor infertility-associated variants cluster within the hinge region. A website has been set up to host this database as well as useful information about SF1available for patients and the public.

Conclusion: SF1/NR5A1 is an ever important cause of endocrine disorders with diverse phenotypes and inheritance patterns. Development of ‘’ will assist researchers, clinicians, patients, and families with background knowledge, phenotypic and genetic information, and related resources for support.

Funding: This work was supported by The Wellcome Trust (098513).

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