Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia

European Journal of Endocrinology

Volumn 142, Issue 3, 2000, Pages 274-279

  Shima, M ^a   Tanae, A ^c   Miki, K ^a   Katsumata, N ^b   Matsumoto, S ^a   Nakajima, S ^a   Harada, T ^a   Shinagawa, T ^b   Tanaka, T ^b   Okada, S ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

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

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; FLUDROCORTISONE; GONADORELIN; HYDROCORTISONE; LUTEINIZING HORMONE; STEROIDOGENIC ACUTE REGULATORY PROTEIN;

ADRENAL HYPERPLASIA; ANOVULATION; ARTICLE; BODY TEMPERATURE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENE MUTATION; HUMAN; INFANT; NEWBORN; OVARY CYST; OVARY DISEASE; PRIORITY JOURNAL;

EID: 0034075504     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1420274     Document Type: Article

References (18)

1. Prader A & Siebenmann RE. Nebennieren Insuffizienz bei kongenitaler Lipoid-hyperplasie der Nebenniern. Helvetica Paediatrica Acta 1957 12 569-595.
2. Lin D, Gitelman SE, Saenger P & Miller WL. Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. Journal of Clinical Investigation 1991 88 1955-1962.
3. Clark BJ & Stocco DM. Expression of the steroidogenic acute regulatory (StAR) protein: a novel LH-induced mitochondrial protein required for the acute regulation of steroidogenesis in mouse leydig tumor cells. Endocrine Research 1995 21 243-257.
4. Lin D, Sugawara T, Strauss JF, III, Clark BJ, Stocco DM, Saenger P et al. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 1995 267 1828-1831.
5. Bose HS, Pescovitz OH & Miller WL. Spontaneous feminization in a 46.XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein. Journal of Clinical Endocrinology and Metabolism 1997 82 1511-1515.
6. Bose HS, Sugawara T, Strauss JF, III & Miller WL. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. New England Journal of Medicine 1996 335 1870-1878.
7. Fujieda K, Tajima T, Nakae J, Sageshima S, Tachibana K, Suwa S et al. Spontaneous puberty in 46.XX subjects with congenital lipoid adrenal hyperplasia: ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. Journal of Clinical Investigation 1997 99 1265-1271.
8. Shima M, Nose O, Shimizu K, Seino Y, Yabuuchi H & Saito T. Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type 1a. European Journal of Pediatrics 1988 147 536-538.
9. Ito J, Tanaka T, Tanae A & Hibi I. Measurement of urinary gonadotropins using immuno-fluorometric assay. Clinical Pediatric Endocrinology 1995 4 7-15.
10. Mio Y, Onohara Y, Sekijima A, Harada T, Iwabe T & Terakawa N. Subtle rise in serum progesterone during the follicular phase as a predictor of the outcome of in vitro fertilization. Fertility and Sterility 1992 58 159-166.
11. Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T et al. Detection of the missense mutation A218V in the steroidogenic acute regulatory protein gene of a Japanese patient with congenital lipoid adrenal hyperplasia. Clinical Pediatric Endocrinology 1997 6 33-37.
12. Maesaka H, Tachibana K, Adachi M & Okada T. Monthly urinary gonadotropin and ovarian hormone excretory patterns in normal girls and female patients with idiopathic precocious puberty. Pediatric Research 1996 40 853-860.
13. Speroff L, Glass RH & Nasa NG. Clinical Gynecologic Endocrinology and Infertility, pp 220-231. Baltimore: Williams & Wilkins, 1989.
14. Winter JSD, Faiman C & Reyes FI. Normal and abnormal pubertal development. Clinical Obstetrics and Gynecology 1978 21 67-86.
15. Shenker A, Laue L, Kosugi S, Merendino JJ, Jr, Minegishi T & Cutler GB, Jr. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 1993 365 652-654.
16. Latronico AC, Anasti J, Arnhold IJP, Rapaport R, Mendonca BB, Bloise W et al. Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. New England Journal of Medicine 1996 334 507-512.
17. Sizonenko PC, Schindler AM, Kohlberg IJ & Paunier L. Gonadotrophins, testosterone and oestrogen levels in relation to ovarian morphology in 11β-hydroxylase deficiency. Acta Endocrinologica 1972 71 539-550.
18. Axelrod LR, Goldzieher JW & Ross SD. Concurrent 3β-hydroxy-steroid dehydrogenase deficiency in adrenal and sclerocystic ovary. Acta Endocrinologica 1965 48 392-412.