The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

European Journal of Endocrinology

Volumn 161, Issue 2, 2009, Pages 237-242

  Köhler, Birgit ^a   Lin, L ^b   Mazen, Inas ^c   Cetindag, Cigdem ^a   Biebermann, Heike ^a   Akkurt, Ilker ^d   Rossi, Rainer ^e   Hiort, Olaf ^f   Grüters, Annette ^a   Achermann, John C ^b  

^a HUMBOLDT UNIVERSITY   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NATIONAL RESEARCH CENTRE   (Egypt)

^d Altonaer Kinderkrankenhaus   (Germany)

^e VIVANTES KLINIKUM NEUKÖLLN   (Germany)

^f UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN AD4BP; PROTEIN NR5A1; PROTEIN SF 1; STEROIDOGENIC FACTOR 1; UNCLASSIFIED DRUG; DNA; FOLLITROPIN; HYDROCORTISONE; INHIBIN; INHIBIN B; MUELLERIAN INHIBITING FACTOR; NR5A1 PROTEIN, HUMAN; PRASTERONE SULFATE; PROGESTERONE DERIVATIVE; TESTOSTERONE;

ADRENAL INSUFFICIENCY; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; DNA BINDING; GENE ASSIGNMENT; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPOSPADIAS; INFANT; INTRON; KARYOTYPE 46,XY; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PENIS; PENOSCROTAL HYPOSPADIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN MOTIF; RNA SPLICING; SEXUAL DEVELOPMENT; SEXUAL DYSFUNCTION; TESTIS; TRANSCRIPTION INITIATION; VIRILIZATION; BLOOD; CHEMISTRY; DNA SEQUENCE; GENETICS; MUTATION; NEWBORN; SITE DIRECTED MUTAGENESIS;

ADRENAL INSUFFICIENCY; ANTI-MULLERIAN HORMONE; COHORT STUDIES; DEHYDROEPIANDROSTERONE SULFATE; DNA; FOLLICLE STIMULATING HORMONE; HUMANS; HYDROCORTISONE; HYDROXYPROGESTERONES; HYPOSPADIAS; INFANT, NEWBORN; INHIBINS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; SEQUENCE ANALYSIS, DNA; STEROIDOGENIC FACTOR 1; TESTOSTERONE;

EID: 68349149348     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0067     Document Type: Article

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