Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene

European Journal of Pediatrics

Volumn 171, Issue 5, 2012, Pages 787-793

  Lekarev, Oksana ^a   Mallet, Delphine ^b   Yuen, Tony ^a   Morel, Yves ^b   New, Maria I ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITÉ LYON 1   (France)

Author keywords

Adrenal insufficiency; Ambiguous genitalia; Congenital adrenal hyperplasia; Congenital lipoid adrenal hyperplasia; Splice donor site mutation; Steroidogenic acute regulatory protein (StAR)

Indexed keywords

ANDROSTANOLONE; ESTRIOL; FLUDROCORTISONE; FOLLITROPIN; GLUCOCORTICOID; HYDROCORTISONE; LUTEINIZING HORMONE; MINERALOCORTICOID; SODIUM CHLORIDE; STEROIDOGENIC ACUTE REGULATORY PROTEIN; TESTOSTERONE; TETRACOSACTIDE;

ADRENAL INSUFFICIENCY; AMNIOCENTESIS; AMNION CELL; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; BIRTH WEIGHT; BRONCHIOLITIS; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; CORTICOTROPIN TEST; DEHYDRATION; ECHOGRAPHY; ESTRIOL BLOOD LEVEL; EVENING DOSAGE; FAMILY HISTORY; FEMALE; FEMALE INFERTILITY; GENE MUTATION; GENETIC VARIABILITY; HERNIOPLASTY; HOMOZYGOSITY; HORMONE SUBSTITUTION; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; INFANT; INGUINAL HERNIA; INTRON; IRRITABILITY; KARYOTYPE 46,XY; MORNING DOSAGE; ORCHIECTOMY; PHENOTYPE; PRIORITY JOURNAL; SEMINIFEROUS TUBULE; SPERMATIC CORD; STEROIDOGENESIS; STRESS; SURGICAL TECHNIQUE; TESTOSTERONE BLOOD LEVEL; UROGENITAL SINUS; VAGINA RECONSTRUCTION; VAS DEFERENS; VIRILIZATION; VOMITING;

46, XY DISORDERS OF SEX DEVELOPMENT; ADRENAL GLANDS; ADRENAL HYPERPLASIA, CONGENITAL; FEMALE; GONADAL DYSGENESIS, 46,XY; HUMANS; INFANT; KARYOTYPE; MALE; MUTATION; PHENOTYPE; PHOSPHOPROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84860292299     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-011-1620-5     Document Type: Article

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