Congenital lipoid adrenal hyperplasia due to STAR deficiency

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Classification according to ICD-10
E25.0 Congenital adrenogenital disorders associated with enzyme deficiency
ICD-10 online (WHO version 2019)

The Congenital adrenal hyperplasia lipoid by STAR deficiency (CLAH) is a very rare congenital disease and special form of congenital adrenal syndrome type 1 (Lipoid) with the features of severe adrenal insufficiency and sex reversal in males. The disease is considered to be a particularly severe form of congenital adrenal hyperplasia (CAH).

Synonyms are: Congenital lipoid adrenal hyperplasia due to STAR deficency; CLAH; Lipoid Congenital Adrenal Hyperplasia; LCAH; Adrenal hyperplasia I; Lipoid Hyperplasia, Congenital, of Adrenal Cortex With Male Pseudohermaphroditism

The first description comes from 1985 by the US doctors BP Hauffa, WL Miller, MM Grumbach, FA Conte and SL Kaplan.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive . Most of the patients are from Japan , Korea or Palestine .

root cause

Of the disease are mutations in the STAR - gene on chromosome 8 locus p11.23 based, which for the StAR protein encoded (Steroidogenic acute regulatory protein) and on the transport of cholesterol across the mitochondrial membrane in the regulation of the synthesis of steroid hormones is involved.

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis can be made prenatally through human genetic testing .

literature

  • Chan Jong Kim: Congenital lipoid adrenal hyperplasia. In: Annals of Pediatric Endocrinology & Metabolism. Vol. 19, 2014, p. 179, doi: 10.6065 / apem.2014.19.4.179 .
  • F. Albarel, J. Perrin, M. Jegaden, F. Roucher-Boulez, R. Reynaud, T. Brue, B. Courbiere: Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report . In: Human reproduction. Vol. 31, No. 11, 11 2016, pp. 2609-2612, doi: 10.1093 / humrep / dew239 , PMID 27698074 .

Individual evidence

  1. ↑ a b c d Adrenal hyperplasia, congenital lipoids, due to STAR deficiency. In: Orphanet (Rare Disease Database).
  2. ↑ BP Hauffa, WL Miller, MM Grumbach, FA Conte, SL Kaplan: Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years. In: Clinical endocrinology. Volume 23, Number 5, November 1985, pp. 481-493, PMID 3841304 .
  3. ↑ a b Lipoid congenital adrenal hyperplasia.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ J. Kaur, L. Casas, H. S Bose: Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient. In: Endocrinology, Diabetes & Metabolism Case Reports. 2016, doi: 10.1530 / EDM-15-0119 .
  5. ↑ HS Ko, S. Lee, H. Chae, SK Choi, M. Kim, IY Park, BK Suh, JC Shin: Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by molecular genetic testing in Korean siblings. In: Yonsei medical journal. Vol. 52, No. 6, November 2011, pp. 1035-1038, doi: 10.3349 / ymj.2011.52.6.1035 , PMID 22028173 , PMC 3220249 (free full text).
  6. ↑ A. Jean, M. Mansukhani, SE Upper Field, I. Fennoy, J. Nakamoto, M. Atwan, I. Lerer, ZB Neriah, DH pliers, WK Chung: Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing. In: Prenatal diagnosis. Vol. 28, No. 1, January 2008, pp. 11-14, doi: 10.1002 / pd.1906 , PMID 18058976

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