Gonadal dysgenesis, 46, XX type

Classification according to ICD-10
Q99.1	Hermaphroditism verus with karyotype 46, XX - pure gonadal dysgenesis - 46, XX with streak gonads - 46, XY with streak gonads
ICD-10 online (WHO version 2019)

The gonadal dysgenesis, 46, XX-type (46, XX-GD) is a rare congenital disease with primary ovarian failure with normal karyotype and otherwise normal girls and women. The gonad does not develop or there is resistance to gonadotropins .

Synonyms are: 46, XX pure gonadal dysgenesis; 46, XX Gonadal Dysgenesis, Complete; FSH resistance of the ovaries; FSH-RO; Gonadotropin resistance of the ovaries; Ovarian dysgenesis, hypergonadotropic; XX Gonadal Dysgenesis, female; XX-GD

The first description comes from 1959 by the South African doctors GA Elliott, A. Sandler and D. Rabinowitz.

distribution

The frequency is given as 1 - 9 in 100,000.

root cause

The cause of the genetic development defect remains mostly unexplained, but some causative mutations have so far been identified:

• with autosomal - recessive inheritance in FSHR - gene on chromosome 2 gene locus p16.3 encoding the receptor of the follicle stimulating hormone (FSHR), as well as in PSMC3IP gene on chromosome 17 locus p21.2
• with X-linked inheritance in the BMP15 gene locus p11.22
• autosomal dominant in the NR5A1 gene on chromosome 9 locus q33

Clinical manifestations

Clinical criteria are:

• Normal development without any noticeable abnormalities
• delayed or absent puberty , amenorrhea
• normally developed genitals

A combination with hearing loss or deafness is called Perrault's syndrome .

So far, two patients with additional pulmonary fibrosis and immunodeficiency have been described.

Differential diagnosis

Other causes of ovarian insufficiency and gonadal dysgenesis, 46, XY-Tyg ( Swyer syndrome ) must be distinguished. In HIV or polyendocrine autoimmune diseases (with mutations in the AIRE gene), ovarian hypoplasia can occur secondarily.

therapy

Treatment consists of hormone replacement therapy .

literature

• D. Zangen, Y. Kaufman, S. Zeligson, S. Perlberg, H. Fridman, M. Kanaan, M. Abdulhadi-Atwan, A. Abu Libdeh, A. Gussow, I. Kisslov, L. Carmel, P. Renbaum , E. Levy-Lahad: XX ovarian dysgenesis is caused by a PSMC3IP / HOP2 mutation that abolishes coactivation of estrogen-driven transcription. In: American Journal of Human Genetics . Vol. 89, No. 4, October 2011, pp. 572-579, doi: 10.1016 / j.ajhg.2011.09.006 , PMID 21963259 , PMC 3188834 (free full text).
• S. Pertusa, A. Palacios: 46 XX pure gonadal dysgenesis: an infrequent cause of primary amenorrhoea. In: Case Reports. 2009, 2009, S. bcr0720080485, doi: 10.1136 / bcr.07.2008.0485

Individual evidence

1. ↑ ^{a b c d e f} Gonadal dysgenesis, 46, XX type. In: Orphanet (Rare Disease Database).
2. ^ GA Elliott, A. Sandler, D. Rabinowitz: Gonadal dysgenesis in three sisters. In: The Journal of clinical endocrinology and metabolism. Vol. 19, August 1959, pp. 995-1003, doi: 10.1210 / jcem-19-8-995 , PMID 13819997 .
3. ↑ Ovarian dysgenesis 1.  In: Online Mendelian Inheritance in Man . (English)
4. ↑ Ovarian dysgenesis 3.  In: Online Mendelian Inheritance in Man . (English)
5. ↑ Ovarian dysgenesis 2.  In: Online Mendelian Inheritance in Man . (English)
6. ↑ Pulmonary fibrosis - immunodeficiency - gonadal dysgenesis. In: Orphanet (Rare Disease Database).
7. ↑ R. Somech, GR Somers, D. Chitayat, E. Grunebaum, A. Atkinson, E. Kolomietz, CM Roifman: Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters-a new syndrome. In: American journal of medical genetics. Part A. Vol. 146A, No. 1, January 2008, pp. 8-14, doi: 10.1002 / ajmg.a.32014 , PMID 17937424 .

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !