Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the NR5A1/SF-1 Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

Hormone Research in Paediatrics

Volumn 78, Issue 2, 2012, Pages 119-126

  Ciaccio, Marta ^a   Costanzo, Mariana ^a   Guercio, Gabriela ^a   De Dona, Valeria ^a   Marino, Roxana ^a   Ramirez, Pablo C ^a   Galeano, Jessica ^a   Warman, Diana Monica ^a   Berensztein, Esperanza ^a   Saraco, Nora ^a   Baquedano, Maria Sonia ^a   Chaler, Eduardo ^a   MacEiras, Mercedes ^a   Lazzatti, Juan Manuel ^a   Rivarola, Marco A ^a   Belgorosky, Alicia ^a  

^a Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan   (Argentina)

Author keywords

Disorders of sex development; Male fertility; SF 1 NR5A1 mutations

Indexed keywords

FOLLITROPIN; MUELLERIAN INHIBITING FACTOR;

ADRENAL FUNCTION; ADULT; AMINO ACID SUBSTITUTION; CHILD; CLINICAL ARTICLE; CONFERENCE PAPER; CRYPTORCHISM; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GONADAL DYSGENESIS; HETEROZYGOTE; HUMAN; HYPOSPADIAS; KARYOTYPE; LIGAND BINDING; MALE; MALE FERTILITY; MICROPENIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PROTEIN FUNCTION; PUBERTY; SEQUENCE ALIGNMENT; SEX DIFFERENTIATION DISORDER; STEROIDOGENIC FACTOR 1 GENE;

46, XY DISORDERS OF SEX DEVELOPMENT; ADULT; CHILD, PRESCHOOL; FEMALE; FERTILITY; GONADAL DYSGENESIS, 46,XX; HUMANS; MALE; MUTATION; PEDIGREE; STEROIDOGENIC FACTOR 1;

EID: 84866494512     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000338346     Document Type: Conference Paper

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