Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.
OBJECTIVE
To determine the genetic cause of primary amenorrhea in a 46,XY woman.


METHODS
Case report.


METHODS
Centre of Gynecological Endocrinology and Cytogenetics and Molecular Genetics Laboratory of university medical school.


METHODS
A 19-year-old woman referred for primary amenorrhea.


METHODS
Clinical, endocrinologic, and ultrasonographic investigation and SRY mutation analysis.


METHODS
Hormone profile (LH, FSH, PRL, leptin, E(2), 17alpha-hydroxyprogesterone, 3alpha-androstanediol glucuronide), ultrasonographic evaluation, clinical follow-up.


RESULTS
A new SRY sporadic mutation due to a single nucleotide insertion at codon 13 position 38 (38-39insA) was found in a 46,XY woman with sex reversal. This mutation determined a frameshift of the reading frame sequence and a protein truncation at codon 16. Clinical and endocrinologic data are reported.


CONCLUSIONS
This is a new rare case of a single nucleotide insertion affecting the SRY gene in 46,XY females with sex reversal. This new mutation should be considered in genetic counseling.
Marchina
Eleonora
E
Department of Biomedical Sciences and Biotechnologies, Biology and Genetics Unit, University of Brescia, Brescia, Italy. marchina@med.unibs.it
Gambera
Alessandro
A
Spinelli
Elide
E
Clerici
Paola
P
Scagliola
Pasquale
P
Sartori
Enrico
E
Barlati
Sergio
S
D020121:5' Untranslated Regions; D000568:Amenorrhea / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics*; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D024282:Genes, sry; D020022:Genetic Predisposition to Disease; D006061:Gonadal Dysgenesis, 46,XY / Q000097:blood / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D024742:HMG-Box Domains; D006728:Hormones / Q000097:blood; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D014463:Ultrasonography; D055815:Young Adult
D020121:5' Untranslated Regions; D003062:Codon; D006728:Hormones