The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development

2013 ◽  
Vol 80 (3) ◽  
pp. 163-169 ◽  
Author(s):  
Bilgin Yüksel ◽  
Alexandra E. Kulle ◽  
Fatih Gürbüz ◽  
Maik Welzel ◽  
Damla Kotan ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Novel Mutation ◽  
Regulatory Protein ◽  
Steroidogenic Acute Regulatory Protein ◽  
The Novel ◽  
Adrenal Hyperplasia ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Steroidogenic Acute Regulatory

scholarly journals A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Vera Splittstösser ◽  
Felix Schreiner ◽  
Bettina Gohlke ◽  
Maik Welzel ◽  
Paul-Martin Holterhus ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Novel Mutation ◽  
Regulatory Protein ◽  
Homozygous Mutation ◽  
Elevated Concentration ◽  
Adrenal Hyperplasia ◽  
Heterochromia Iridis ◽  
Phenotypical Feature ◽  
Steroidogenic Acute Regulatory ◽  
Star Gene

Abstract Background We report a novel mutation within the StAR gene, causing congenital adrenal hyperplasia, with the so far unreported association with heterochromia iridis. Case presentation In a now 15-year-old girl (born at 41 + 6 weeks of gestation) adrenal failure was diagnosed in the neonatal period based on the clinical picture with spontaneous hypoglycaemia, hyponatremia and an extremely elevated concentration of ACTH (3381 pmol/l; ref. level 1,1–10,1 pmol/l), elevated renin (836 ng/l; ref. level 5–308 ng/l), and a decreased concentration of aldosterone (410 pmol/l; ref. level 886–3540 pmol/l). In addition to hyperpigmented skin the patient exhibited sectorial heterochromia iridis. Sequence analysis of the steroidogenic acute regulatory protein (StAR) gene showed a novel homozygous mutation (c.652G > A (p.Ala218Thr), which was predicted in-silico to be possibly damaging. Under daily steroid substitution her electrolyte levels are balanced while she became obese. Puberty occurred spontaneously. Conclusion A novel mutation in the StAR gene was identified in a patient with severe adrenal hypoplasia and sectorial heterochromia iridis. We discuss a causal relationship between these two rare phenotypes, i.e. whether very high levels of ACTH and alpha-MSH during early development might have disturbed early differentiation and distribution of uveal melanocytes. If confirmed in additional cases, discolorization of the iris might be considered as an additional phenotypical feature in the differential diagnosis of congenital adrenal insufficiency.

scholarly journals The rare form of congenital adrenal hyperplasia caused by an autosomal dominant form of STAR deficiency

2018 ◽  
Vol 64 (3) ◽  
pp. 157-159
Author(s):  
Natalia Y. Kalinchenko ◽  
Galina V. Chistousova ◽  
Vasily M. Petrov ◽  
Evgeny V. Vasiliev ◽  
Anatoly N. Tiulpakov
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Autosomal Dominant ◽  
Regulatory Protein ◽  
Heterozygous Mutation ◽  
Adrenal Hyperplasia ◽  
Dominant Form ◽  
Recessive Mutations ◽  
Sex Development ◽  
Star Gene

The steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function due to autosomal-recessive mutations in the STAR gene leads to lipoid congenital adrenal hyperplasia (LCAH) which is characterized by impaired synthesis of adrenal and gonadal steroids, which causes adrenal insufficiency, primary ovarian failure in 46XX patients, or 46XY disorder of sex development (DSD). However, there were a few reports of 46 XY DSD patients with LCAH caused by a heterozygous mutation in the STAR gene. Here, we describe another rare case of LCAH in a 46XY patient with DSD and primary adrenal insufficiency due to an autosomal-dominant mutation in the STAR gene.

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