Deficiency of 17,20-lyase causing giant ovarian cysts in a girl and a female phenotype in her 46,XY sister: Case report

Human Reproduction

Volumn 19, Issue 2, 2004, Pages 456-459

  ten Kate Booij, Marianne J ^a   Cobbaert, Christa ^a   Koper, Jan W ^b   de Jong, Frank H ^b  

^a AMPHIA HOSPITAL   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

17,20 lyase deficiency; Gene mutation; Ovarian cysts; P450c17

Indexed keywords

ANDROGEN; ANDROSTENEDIONE; CETRORELIX; CYTOCHROME P450 17; DNA BASE; ESTRADIOL; ESTROGEN; ETHINYLESTRADIOL PLUS LEVONORGESTREL; FOLLITROPIN; GONADORELIN AGONIST; GONADORELIN ANTAGONIST; GONADOTROPIN; GOSERELIN; HYDROXYPROGESTERONE; LUTEINIZING HORMONE; PRASTERONE; PROGESTERONE; SEX HORMONE; STEROID 17,20 LYASE; STEROID HORMONE; TRIPTORELIN;

ABDOMINAL PAIN; ADOLESCENT; ALLELE; ANDROGEN SYNTHESIS; ARTICLE; BASE PAIRING; CASE REPORT; ENDOCRINE DISEASE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ESTROGEN BLOOD LEVEL; ESTROGEN SYNTHESIS; EXON; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE DELETION; GENE MUTATION; GROWTH STIMULATION; HETEROZYGOTE; HORMONE BLOOD LEVEL; HORMONE DETERMINATION; HORMONE SUBSTITUTION; HUMAN; KARYOTYPE 46,XY; LUTEINIZING HORMONE BLOOD LEVEL; NEGATIVE FEEDBACK; OVARY CYST; OVARY DISEASE; PATIENT REFERRAL; PHENOTYPE; PROGESTERONE BLOOD LEVEL; SIBLING; TORSION;

FALLOPIA;

EID: 1242341381     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/deh065     Document Type: Article

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