Perrault syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Perrault syndrome is a very rare congenital disease with a combination of gonadal dysgenesis in homozygous women and sensorineural hearing loss in both sexes.

Synonyms are: XX gonadal dysgenesis with deafness; English Gonadal dysgenesis, XX type, with deafness; Ovarian dysgenesis with sensorineural deafness; Gonadal dysgenesis, XX type

The name refers to the first author of the first description from 1951 by the French M. Perrault, B. Klotz and E. Housset.

distribution

The frequency is given as less than 1 in 1,000,000, so far over 30 affected people in 15 families have been described. Inheritance is autosomal - recessive .

root cause

Depending on the underlying mutation , the following types can be distinguished:

Type 1 with mutations in HSD17B4 - gene on chromosome 5 locus Q23.1
Type 2 with mutations in the HARS2 gene on chromosome 5 locus q31.3
Type 3 with mutations in the CLPP gene on chromosome 19 locus p13.3
Type 4 with mutations in the LARS2 gene on chromosome 3 locus p21.31
Type 5 with mutations in the TWNK gene on chromosome 10 locus q24.31
Type 6 with mutations in the ERAL1 gene on chromosome 17 locus q11.2

Clinical manifestations

Clinical criteria are:

in females gonadal dysgenesis with primary amenorrhea , infertility , genital infantilism , hypergonadotropic hypogonadism
congenital inner ear hearing loss
normal gonads in males

Median age at diagnosis 22 years with delayed puberty

Short stature in half of those affected

In addition to neurological symptoms such as ataxia , dyspraxia or polyneuropathy come. A Marfanoid physique is also described.

diagnosis

The diagnosis is based on clinical findings, hormonal and neurological examinations with reduced nerve conduction velocity .

Differential diagnosis

A distinction must be made between the pseudo-Zellweger syndrome and the much more common Turner syndrome .

Prospect of healing

The life expectancy is normal. The course depends largely on the neurological changes.

literature

J. Lerat, L. Jonard, N. Loundon, S. Christin-Maitre, D. Lacombe, C. Goizet, C. Rouzier, L. Van Maldergem, S. Gherbi, EN Garabedian, JP Bonnefont, P. Touraine, I. Mosnier, A. Munnich, F. Denoyelle, S. Marlin: An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. In: Human mutation. Volume 37, Number 12, December 2016, pp. 1354-1362, doi: 10.1002 / humu.23120 , PMID 27650058 (review).
RK Agrawala, AK Choudhury, BK Mohanty, AK Baliarsinha: Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder. In: Journal of pediatric endocrinology & metabolism: JPEM. Volume 28, number 9-10, September 2015, pp. 1005-1007, doi: 10.1515 / jpem-2014-0292 , PMID 25741941 .
S. Marlin, D. Lacombe, L. Jonard, N. Leboulanger, D. Bonneau, C. Goizet, TB de Villemeur, S. Cabrol, M. Houang, L. Moatti, D. Feldmann, F. Denoyelle: Perrault syndrome : report of four new cases, review and exclusion of candidate genes. In: American journal of medical genetics. Part A. Volume 146A, number 5, March 2008, pp. 661-664, doi: 10.1002 / ajmg.a.32180 , PMID 18241061 .

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ ^a ^b ^c ^d ^e ^f Perrault syndrome. In: Orphanet (Rare Disease Database).
↑ M. Perrault, B. Klotz, E. Housset: Deux cas de syndrome de Turner avec surdi-mutite dans une meme fratrie. In: Bulletins et memoires de la Societe medicale des hopitaux de Paris. Vol. 67, No. 3-4, 1951 Jan 26-Feb 2, pp. 79-84, PMID 14821788 .
^ Perrault syndrome 1. In: Online Mendelian Inheritance in Man . (English)
^ Perrault syndrome 2. In: Online Mendelian Inheritance in Man . (English)
^ Perrault syndrome 3rd In: Online Mendelian Inheritance in Man . (English)
^ Perrault syndrome 4th In: Online Mendelian Inheritance in Man . (English)
^ Perrault syndrome 5. In: Online Mendelian Inheritance in Man . (English)
^ Perrault syndrome 6. In: Online Mendelian Inheritance in Man . (English)
↑ M. Zerkaoui, LA Demain, I. Cherkaoui Jaouad, I. Ratbi, K. Amjoud, JE Urquhart, J. O'Sullivan, WG Newman, A. Sefiani: Marfanoid habitus is a nonspecific feature of Perrault syndrome. In: Clinical dysmorphology. Volume 26, Number 4, October 2017, pp. 200-204, doi: 10.1097 / MCD.0000000000000198 , PMID 28832386 .

Web links

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] ↑ ^a ^b ^c ^d ^e ^f Perrault syndrome. In: Orphanet (Rare Disease Database).

[3] M. Perrault, B. Klotz, E. Housset: Deux cas de syndrome de Turner avec surdi-mutite dans une meme fratrie. In: Bulletins et memoires de la Societe medicale des hopitaux de Paris. Vol. 67, No. 3-4, 1951 Jan 26-Feb 2, pp. 79-84, PMID 14821788 .

[4] Perrault syndrome 1. In: Online Mendelian Inheritance in Man . (English)

[5] Perrault syndrome 2. In: Online Mendelian Inheritance in Man . (English)

[6] Perrault syndrome 3rd In: Online Mendelian Inheritance in Man . (English)

[7] Perrault syndrome 4th In: Online Mendelian Inheritance in Man . (English)

[8] Perrault syndrome 5. In: Online Mendelian Inheritance in Man . (English)

[9] Perrault syndrome 6. In: Online Mendelian Inheritance in Man . (English)

[10] M. Zerkaoui, LA Demain, I. Cherkaoui Jaouad, I. Ratbi, K. Amjoud, JE Urquhart, J. O'Sullivan, WG Newman, A. Sefiani: Marfanoid habitus is a nonspecific feature of Perrault syndrome. In: Clinical dysmorphology. Volume 26, Number 4, October 2017, pp. 200-204, doi: 10.1097 / MCD.0000000000000198 , PMID 28832386 .