Clinical Trial Details
— Status: Enrolling by invitation
Administrative data
| NCT number |
NCT05223621 |
| Other study ID # |
APHP200833 |
| Secondary ID |
IDRCB 2020-A0176 |
| Status |
Enrolling by invitation |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
February 2022 |
| Est. completion date |
May 2022 |
Study information
| Verified date |
January 2022 |
| Source |
Assistance Publique - Hôpitaux de Paris |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
Turner syndrome (TS) is a rare disease affecting 1/2500 female. It is defined by a complete
or partial loss of an X chromosome associated with clinical signs. The most frequent signs
are a small height and primary ovarian insufficiency (POI). POI occurs in 95% of patients
with TS. Clinically, patients have amenorrhea with elevated FSH levels (> 25 IU/L), before
the age of 40. In most cases, patients receive hormonal replacement therapy. Among patients
with POI, TS is present in less than 10% of cases. Therefore POI may occur in patients with
normal karyotype, therefore without TS.
Preliminary data suggest altered sexual function in patients with TS. The first goal of our
study is to evaluate sexual function and sexual quality in patients with TS using a
questionnaire, the Female Sexual Function Index (FSFI).
The second goal is to compare sexual quality in patients in patients with TS compared to
female patients with POI not related to TS. Our study should identify predictive markers of
altered sexual function.
The final endpoint is to optimize the quality of life of patients with TS and to enhance, if
necessary psychological support in such patients.
Description:
Turner syndrome (TS) is a rare disease. It affects around 1/2500 female newborns. It is
defined as a chromosomal abnormality with a total or partial loss of one X chromosome
associated with clinical signs of TS, such as a small height and primary ovarian
insufficiency (POI). POI is present in 95% of patients with TS. Its definition relies on
amenorrhea or severe oligomenorrhea with an elevated FSH level higher than 25 IU/L occurring
before the age of 40 years. In TS, POI is related to an accelerated ovarian follicle loss due
to atresia. Patients with POI should receive hormonal replacement therapy (HRT) with estrogen
and progesterone/progestin. Patients with POI should be on HRT until the age of physiological
menopause, around 51 years of age. One of the main consequence of POI is infertility. The
rate of natural pregnancy in women with TS is around 7%. Other clinical signs included in TS
are cardiovascular diseases (50% of cases), deafness (34%), renal diseases (24-42%) or
autoimmune diseases. Recent studies suggest psychological abnormalities in patients with TS.
They include low self-esteem, anxiety and in some cases autistic traits. Preliminary studies
have suggested altered sexual life in women with TS. The goal of our study is to evaluate the
quality of sexual life in such patients using of validated questionnaire, the Female Sexual
Fonction Index (FSFI).
This questionnaire contains 19 questions. It has been translated in French. It has been
previously used in a French study testing sexual life of women with 21 hydroxylase
deficiency. Recently a simplified version of this questionnaire containing only 6 questions
has been validated. Several studies using both questionnaires have shown similar results with
both questionnaire. Therefore, the investigators are going to use the simplified
questionnaire. A major reason is that patients with TS have in general a low self-esteem and
the simplified version is less intrusive than the entire questionnaire. Therefore , the
investigators believe that it will be easier for patients with TS to fill this simplified
version of FSFI questionnaire.
In order to evaluate whether sexual dysfunction in women with TS is related to Turner
syndrome or to POI by itself, the investigators have included a control group. Women with POI
with normal karyotype, in whom POI is not related to Turner syndrome are going to be included
in our study. POI in such women may be related to chemotherapy, radiotherapy, ovarian
surgery, autoimmune diseases or genetic diseases. So far, more than 70 candidate genes have
been identified in patients with POI.
Our Unit, based in St Antoine hospital, Assistance-Publique hôpitaux de Paris, France, has
been recognized in 2006 by the French Ministry of Health as a reference center for rare
endocrine diseases including Turner syndrome and patients with POI. Our center belongs to
FIRENDO network and is recognized as a member of the European network of rare diseases
(Endo-ERN). It includes 350 patients with TS and 600 patients with POI not related to TS. All
patients have given an authorization to use their clinical data. In order to have a high rate
of responders , the investigators are going to send the questionnaire to patients who last
visited our Unit between 2018 and December of 2020.
The main goal of our study is to evaluate sexual function of such patients and , the
investigators wish to confirm or not whether sexual quality of sexual life is altered in
patients with TS. If our study illustrates such an alteration, special care concerning sexual
function should be initiated in patients with TS. In particular, psychologists should be
recruited to improve the life of patients with TS. Our study should have a direct impact in
patients with TS.
Two groups of adult patients, aged between 18 and 50 years of age, are going to receive the
simplified FSFI anonymous questionnaire by postal mail. The first group is women with POI
related to TS and the second group women with POI not related to TS. If no answer is
received, patients will be called over the phone by a single physician in order to help the
patients answer the questionnaire (Dr Emma Dubost).
