Genetic and endocrinological evaluations of three 46,XX patients with congenital lipoid adrenal hyperplasia previously reported as having presented spontaneous puberty

Endocrine Journal

Volumn 47, Issue 5, 2000, Pages 629-634

  Tanae, Ayako ^a   Katsumata, Noriyuki ^b   Sato, Naoko ^b   Horikawa, Reiko ^a   Tanaka, Toshiaki ^b  

^a National Children's Hospital

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Congenital lipoid adrenal hyperplasia; Hypothalamic pituitary ovarian function; Mutation; Steroidogenic acute regulatory protein

Indexed keywords

ADRENAL HYPERPLASIA; ADULT; ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; HUMAN; LUTEINIZING HORMONE RELEASE; OVARY CYST; PUBERTY; STEROIDOGENESIS;

EID: 0033769239     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.47.629     Document Type: Article

References (11)

1. Nebenniereninsuffizienz bei kongenitaler lipoihyperplasie der nebennieren
2. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis
3. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia
4. Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia: Ovarian steroidogenesis is spared to some extent despite in activating mutations in the steroidogenic acute regulatory protein (StAR) gene
5. Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia
6. Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to homozygous frameshift mutation in the steroidogenic acute regulatory protein
7. Pubertal presentation in patients with congenital lipoid adrenal hyperplasia
8. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
9. Detection of the missense mutation A218V in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia
10. DNA sequencing with chain-termination inhibitors
11. Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia