PMID: 18724044Aug 30, 2008Paper

Ovarian histological findings in an adult patient with the steroidogenic acute regulatory protein (StAR) deficiency reveal the impairment of steroidogenesis by lipoid deposition

Endocrine Journal
Uiko KakuYukihiro Hasegawa

Abstract

The steroidogenic acute regulatory protein (StAR) is essential for the production of steroid hormones. The mutations in the StAR gene typically cause congenital lipoid adrenal hyperplasia (lipoid CAH), characterized by severe adrenal insufficiency in both sexes and complete female external genitalia in genetic males. Affected 46, XX females feminize at puberty and menstruate but have progressive hypergonadotropic hypogonadism. It has been hypothesized that the cholesterol accumulation in the steroidogenic cells destroys the residual steroidogenic capacity and progressive ovarian failure occurs (two-hit model). Additionally, ovulation and luteinization in the patients is supposed to be impaired. However, those hypotheses have not been confirmed histologically. We examined whether pathological findings of the ovary in a patient of lipoid CAH corresponded with two-hit model, and whether ovulation and luteinization occurred or not in the patient. The ovary in an adult 46, XX female with a homozygous nonsense mutation (Q258X) in the StAR gene was examined. When the patient was age 22 yr, the ovary was resected because of enlargement with polycysts and subsequent torsion. The affected ovary demonstrated remarkable lipoid deposition a...Continue Reading

References

Feb 28, 1995·Proceedings of the National Academy of Sciences of the United States of America·K A RismaJ H Nilson
Dec 1, 1994·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·T SuzukiH Nagura
Jan 1, 1996·The Journal of Steroid Biochemistry and Molecular Biology·J P LydonB W O'Malley
Dec 19, 1996·The New England Journal of Medicine·H S BoseUNKNOWN International Congenital Lipoid Adrenal Hyperplasia Consortium

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Citations

Sep 21, 2000·Molecular and Cellular Endocrinology·S R KingD M Stocco
Dec 6, 2012·European Journal of Endocrinology·Amalia SertedakiCatherine Dacou-Voutetakis
Nov 9, 2010·European Journal of Pediatrics·Hye Young JinHan-Wook Yoo
May 18, 2016·European Journal of Endocrinology·Tomohiro IshiiTomonobu Hasegawa
Nov 27, 2018·The Journal of Clinical Endocrinology and Metabolism·Naomi HatabuTomonobu Hasegawa
Dec 29, 2013·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Renata Prunskaite-HyyryläinenSeppo J Vainio
Aug 25, 2020·The Journal of Clinical Endocrinology and Metabolism·Tomohiro IshiiTomonobu Hasegawa
Apr 27, 2010·Current Opinion in Endocrinology, Diabetes, and Obesity

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