The aim of this study is to determine whether male microchimerism is present in patients with MRKH syndrome. This would be a sign of intrauterine cell trafficking - and possible AMH transfer- from male to female co-twin. This placental blood…
ID
Source
Brief title
Condition
- Reproductive tract and breast disorders congenital
- Congenital reproductive tract and breast disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The presence of chimerism in MRKH patients, determined by Y-chromosome-specific
real-time quantitative polymerase chain reaction.
Secondary outcome
In addition we want to test if the chimerism is only confined to blood, by
testing (micro)chimerism in non-hematopoietic tissue (buccal smear) in MRKH
patients. If the chimerism is present in the blood, but not in this
non-hematopoietic tissue, this supports the idea that the chimerism is a result
of blood sharing via intrauterine placental connections.
Background summary
Mayer Rokitansky Küster Hauser (MRKH) syndrome is a congenital disorder,
characterized by aplasia of the uterus and the upper two thirds of the vagina.
The aetiology of this disease is unknown. The freemartin phenomenon represents
a similar phenotype in cattle, in which female calves are lacking the Müllerian
duct derivatives.This phenomenon occurs in sex-discordant calf-twins, in
which a shared placenta allows blood exchange. It is speculated that placental
transfusion of antimullerian hormone (AMH) from male to female calf-fetus is a
possible cause. This placental transfusion also results in blood chimerism; the
existence of two blood cell lines in one organism derived from two genetically
distinct zygotes.
We hypothesize that in humans too, transfusion of AMH intra-uterine from a male
co-twin to a female co-twin is responsible for the development of MRKH in the
female co-twin. The Müllerian duct in human develops in the sixth week of
pregnancy. This means that possible twin-to-twin-transfusion of AMH - resulting
in regression of the duct - takes place in an early stage in fetal development.
Therefore it can also occur in the case of a spontaneous reduction of one fetus
(vanishing twin). A vanishing twin can leave its traces by microchimerism: in
which a second cell line is present with a low concentration in the surviving
fetus.
Study objective
The aim of this study is to determine whether male microchimerism is present in
patients with MRKH syndrome. This would be a sign of intrauterine cell
trafficking - and possible AMH transfer- from male to female co-twin. This
placental blood transfusion could be the cause of the origin of the MRKH
syndrome.
Study design
Observational case control study.
Study burden and risks
This is a non-therapeutic study. In the course of this study we ask the
subjects for one visit to the outpatient clinic or a home visit for blood
sampling and a short questionnaire.
de Boelelaan 1118
Amsterdam 1081HZ
NL
de Boelelaan 1118
Amsterdam 1081HZ
NL
Listed location countries
Age
Inclusion criteria
Patients:
- Diagnosed with MRKH syndrome
- 18 - 50 years;Control group: (already sampled as control patients in a previous study)
- 18 - 50 jaar
Exclusion criteria
- not willing or able to sign the informed consent
- reported pregnancy (in the control group)
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL57503.029.16 |
| Other | TC = 5961 |