Isolated 17,20 lyase deficiency

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Classification according to ICD-10
E29.1 Testicular hypofunction
ICD-10 online (WHO version 2019)

The isolated 17,20-lyase deficiency is a very rare congenital form of CAH caused by 17-alpha-hydroxylase deficiency , which belongs to the congenital adrenal hyperplasias , also adrenogenital syndrome type V, and which leads to the disruption of sexual development.

The specialty is the isolated lack of 7α-hydroxyprogesterone aldolase, in short: 17,20-lyase.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease are mutations in the CYP17A1 - gene on chromosome 10 locus q24.32 basis.

The gene codes for the P450C17 enzyme , which acts as a catalyst for two different reactions, on the one hand for the steroid 17α-hydroxylase and on the other hand for the 17α-hydroxyprogesterone aldolase (short: 17,20-lyase).

Differential diagnosis

Other forms of congenital adrenal hyperplasia or adrenogenital syndrome, in particular CAH due to 17-alpha-hydroxylase deficiency with a combined complete or partial deficiency of 17-alpha-hydroxylase and 17,20-lyase, must be distinguished.

therapy

Treatment consists of lifelong hormone replacement therapy .

literature

  • J. Idkowiak, T. Randell, V. Dhir, P. Patel, CH Shackleton, NF Taylor, N. Krone, W. Arlt: A missense mutation in the human cytochrome b5 gene causes 46, XY disorder of sex development due to true isolated 17.20 lyase deficiency. In: The Journal of clinical endocrinology and metabolism. Vol. 97, No. 3, March 2012, pp. E465-E475, doi: 10.1210 / jc.2011-2413 , PMID 22170710 , PMC 3388247 (free full text).
  • RC Kok, MA Timmerman, KP Wolffenbuttel, SL Drop, FH de Jong: Isolated 17.20-lyase deficiency due to the cytochrome b5 mutation W27X. In: The Journal of clinical endocrinology and metabolism. Vol. 95, No. 3, March 2010, pp. 994-999, doi: 10.1210 / jc.2008-1745 , PMID 20080843 .
  • WL Miller, DH Geller, RJ Auchus: The molecular basis of isolated 17.20 lyase deficiency. In: Endocrine research. Vol. 24, No. 3-4, 1998 Aug-Nov, pp. 817-825, PMID 9888582 (review).
  • EG Biglieri: 17 alpha-hydroxylase deficiency: 1963-1966. In: The Journal of clinical endocrinology and metabolism. Vol. 82, No. 1, January 1997, pp. 48-50, doi: 10.1210 / jcem.82.1.3653 , PMID 8989231 .

Individual evidence

  1. ↑ a b Disorder of sex development 46, XY, due to isolated 17,20-lyase deficiency. In: Orphanet (Rare Disease Database).
  2. ↑ emedicine.medscape
  3. ↑ 17.20-lyase deficiency, isolated.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ V. Dhir, N. Reisch, CM Bleicken, J. Lebl, C. Kamrath, HP Schwarz, J. Grötzinger, WG Sippell, FG Riepe, W. Arlt, N. Krone: Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene. In: The Journal of clinical endocrinology and metabolism. Vol. 94, No. 8, August 2009, pp. 3058-3064, doi: 10.1210 / jc.2009-0172 , PMID 19454579 .