Donor splice mutation in the 11β-hydroxylase (CYP11B1) gene resulting in sex reversal: A case report and review of the literature

Journal of Pediatric Endocrinology and Metabolism

Volumn 19, Issue 10, 2006, Pages 1267-1282

  Bhangoo, Amrit ^a   Wilson, Robert ^b   New, Maria I ^b   Ten, Svetlana ^a,c  

^a MAIMONIDES MEDICAL CENTER   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c NONE   (United States)

Author keywords

11 hydroxylase; Adrenal insufficiency; CYP11B1 gene; Hypertension; Virilization sex reversal

Indexed keywords

CORTICOTROPIN; CYTOSINE; DEOXYCORTICOSTERONE; GLUCOCORTICOID; GUANINE; HYDROCORTISONE; HYDROXYPROGESTERONE; STEROID 11BETA MONOOXYGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CODON; CONGENITAL ADRENAL HYPERPLASIA; CONSANGUINITY; CORTICOTROPIN TEST; DISEASE SEVERITY; DONOR; ECHOGRAPHY; FEMALE; GENDER IDENTITY; GENE MUTATION; GENETIC ANALYSIS; GYNECOLOGIC SURGERY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERTENSION; INTRON; KARYOTYPE 46,XX; MEDICAL LITERATURE; MISSENSE MUTATION; NEWBORN; PAKISTAN; PATHOGENESIS; SALT LOSING NEPHRITIS; SRY GENE; UROGENITAL SINUS; VIRILIZATION;

EID: 37849188987     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2006.19.10.1267     Document Type: Article

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