Booklets from the Turner Center
- Turner´s Syndrome. An Orientation by Johannes
Nielsen, Rune Næraa and Members of Turner Contact Groups in Denmark
- This book was written and published in Danish in 1985 on the background of a tremendous
need for further information about Turner's syndrome, and a wish to extend the knowledge
about Turner contact groups in Denmark. It is in no way an attempt to give a comprehensive
description of all aspects of Turner's syndrome. The book has been written with the
intention of providing better information for Turner girls/women, their parents and
relatives, as well as for parents who have undergone prenatal examination and been
informed that the cild they are expecting has Turner's syndrome. It is, however, also our
hope that it will be read by genetical counsellers, doctors, teachers and others who come
into professional contact with Turner girls/women and parents. There has so far been a
great interest and demand for this book, and there is no doubt that it fills a gap in the
available information about Turner's syndrome.
-
- Internet version for online viewing or printing.
- Turner syndrome: Treatment With Natural Estrogen
by Rune Weis Naeraa et al.
- In most countries either the artificial ethinylestradiol or the equine conjugated
estrogens have been used for substitution therapy. In Denmark, however, peroral natural
(human) estrogen (17-43-estradiol) has been the primary drug of choice for the purpose of
estrogen replacement therapy of adult women for a considerable number of years.
Furthermore, it has been used for induction of puberty in Danish Turner girls since 1977
on the initiative of Dr. K.W. Kastrup, and considerable experience has been
accumulated.Interest in the use of natural estrogens has been increasing, but as
experience outside Denmark is limited, we think the following guidelines will be helpful
to physicians wishing to undertake this type of treatment.Since the first edition(s) of
these guidelines was published as two booklets, we have received many valuable comments
for which we are grateful. These comments - together with the results of newer studies -
made a new edition necessary. In this second edition both induction of puberty as well as
longterm estrogen treatment have been covered.The most significant change from the first
edition is a lowering of the recommended initial (starting) dose due to the observation of
inappropriate bone age maturation in the youngest girls when given the earlier recommended
dose.
-
- Internet version for online viewing or printing.
- Klinefelter's syndrome. An Orientation by Johannes
Nielsen
- This booklet was written and published in the light of a tremendous need for further
information on Klinefelter's syndrome. It is in no way an attempt of giving a complete
description of all aspects of Klinefelter's syndrome. The booklet was written in order to
give a better information to Klinefelter-boys and their parents as well as to adult males
with Klinefelter's syndrome, but it is also our hope that it will be read by genetic
counsellors, physicians, teachers and others who come into contact with boys and adult
males with Klinefelter's syndrome. More information on all levels will, however, first and
foremost be valuable to Klinefelter-males and their relatives. Publication by the Danish
National Society of Turner Contact Groups should be seen as an expression of this
society's wish to participate in the spreading of knowledge of Klinefelter's syndrome and
create the possibility of establishing Klinefelter contact groups. Furthermore, to make an
information, counselling and research center for people with Turner's syndrome and other
sex chromosome abnormalities such as Klinefelter's syndrome, Triple-X and XYY syndrome.
-
- Internet version for online viewing or printing.
- XYY Males. An Orientation by Johannes Nielsen
- This booklet was written and published in the light of a tremendous need for further
information about XYY males.It is in no way an attempt of giving a complete description of
alle aspects of XYY males.The booklet was written in order to give a better information to
XYY boys and their parents as well as to adult XYY males, but it is also our hope that it
will be read by genetic counsellors, physicians, teachers and others who come into contact
with XYY boys and adult XYY males. More information on all levels will, however, first and
foremost be valuable to XYY males and their relatives. Publication by the Turner Center in
Risskov, Denmark, should be seen as part of the work in this center with information,
counselling and research concerning Turner and Triple-X females, Klinefelter and XYY
males.
-
- Internet version for online viewing or printing.
- Triple-X Females. An Orientation by Johannes
Nielsen
- This booklet was written and published in the light ot a tremendous need for further
information about Triple-X females.It is in no way an attempt of giving a complete
description of all aspects of Triple-X.The booklet was written in order to give a better
information to Triple-X girls and their parents as well as to adult women with Triple-X,
but it is also our hope that it will be read by genetic counsellors, physicians, teachers
and others who come into contact with girls and adult women with Triple-X. More
information on all levels will, however, first and foremost be valuable to Triple-X
females and their relatives. Publication by the Turner Center in Risskov, Denmark, should
be seen as part of the work in this center with information, counselling and research
concerning Turner and Triple-X females and Klinefelter and XYY males.
-
- Internet version for online viewing or printing
- Follow-Up: Sex Chromosome Abnormalities to Age 12
by Johannes Nielsen.
- This is a Follow-Up of 25 unselected children with sex chromosome abnormalities to age
12 found among 11.148 unselected newborn babies in Århus.
Article from "Birth Defects: Original Article Series", Volume 26, Number 4,
pages 201-207
copyright 1991 March of Dimes Birth Defects Foundation.
-
- Internet version for online viewing or printing.
- Follow-up of 30 Klinefelter males treated with testosterone
by Johannes Nielsen, Bjarne Pelsen and Kurt Sørensen
- Thirty Klinefelter males treated with testosterone were studied by a
follow-up examination carried out an average of 3.6 years after treatment began.
- Article from Clinical Genetics 1988 33:262-269.
-
- Internet version for online viewing or printing.
- Follow-up 20 years later of 34 Klinefelter males with
karyotype 47,XXY and 16 hypogonadal males with karyotype 46,XY by J.Nielsen and B.
Pelsen
- A 20-year follow-up study of 50 hypogonadal males has been made. Of these 34 had
Klinefelter's syndrome with the karyotype 47,XXY and 16 had the karyotype 46,XY. These
males have been examined at mean ages of 27 and 37 and in the present study at a mean age
of 47.
- Article from Hum. Genet. 1987, 77:188-192
-
-
Internet version for online viewing or printing.
- Sex Chromosome Abnormalities Found Among 34.910 Newborn
Children:
Results From a 13-year Incidence Study in Århus, Denmark by J. Nielsen and M.
Wohlert
- The present chromosome
investigation is part of a larger prospective study of environmental factors on pregnancy,
birth, and the fetus.
Follow-up studies of 203
unselected children with sex chromosome abnormalities in the United States, Scotland,
Canada, and Denmark [4-6] have shown that children with sex chromosome abnormalities are
at increased risk for deviations in mental development compared to sibs and children with
normal chromosomes.
-
- Internet version for online viewing or
printing
- Approach to prenatal councelling when Turner
syndrome is the diagnosis by Johannes Nielsen
- At the time of prenatal counselling, the parents should be told that
they can expect to have a normal girl. She will be a girl with normal genital organs and
she will develop as a girl and woman in every sense of the word. She will be able
to have a normal sex life, and to marry like other women. She will be able to
adopt and in some countries she will be able to become pregnant with egg donation and
IVF.
When she is born she may have swollen hands and feet, some extra skin at
the neck. She may have temporary thriving problems during the 1st year of
life. The risk of heart disorders, should be presented. Such a disorder can be operated
successfully.
She will most probably be short in stature, but growth stimulation
treatment can give increased growth velocity during childhood and some increase in
final height. There is, however, no indication of any correlation between final height
and social, educational level or psychological problems. There is also a risk of
hearing impairment. The parents should also be told, that Turner girls should be
stimulated, given proper information and treated according to age and not
according to her reduced stature and that they will have an intelligence within the
normal range.
The parents should be given sufficient time to ask as many questions as
they feel like. The job of the genetic counsellor is to give a frank
understandable and complete information concerning alI aspects of Turner syndrome during childhood,
puberty as well as during adult and elderly life. The parents should further be
given adequate Turner literature and have the opportunity to meet an adult Turner woman
and a family with a Turner daughter.
-
- Internet version for online viewing or
printing
-
Cardiovascular malformations
in Turner syndrome by B. Kragh-Olsen, C.-O. Gøtzsche, J. Nielsen
and B.Ø. Kristensen
- To establish the prevalence of cardiovascular
malformations in females with Turner syndrome and analyse possible
associations to various Turner karyotypes (45,X-mosaic monosomy X and
structural abnormalities of the X-chromosome), 179 females representing
46% of all known females with Turner syndrome in Denmark were examined.
Clinical examination, ECG and echocardiography, including Doppler, were
performed. In 46 (26%) of the females, a total of 69 cardiovascular
malformations were found, aortic valve abnormality (in 18%) and aortic
coarctation (in 10%) being the most common. There were significant
differences in the prevalence of cardiovascular malformations between
45,X mosaic monosome X structural abnormalities (38, 11 and 0%,
respectively). Pulmonary valve disease was only seen in females with
mosaic monosomy X. Considering the prophylactic and therapeutic
implications, we recommend a cardiological examination including
echocardiography in alI with Turner syndrome once the diagnosis is
established.
-
- Internet version for online viewing or
printing
- Transcultural study of
Turner's syndrome by J. Nielsen and Marleen Stradiot
- A transcultural questionnaire study was made of 111 girls with Turner's
syndrome aged 17 to 30 from Belgium, Canada, Denmark, France, The FRG and
Hungary. The study reveals that there is still too much serecy and ignorance
concerning Turner's syndrome, and the diagnosis should be made and presented
together with full information much earlier than at present, preferably at
birth.
-
- Internet version for online
viewing or printing
- What more can be done for girls
and women with turner syndrome by Johannes Nielsen
- We ought to diagnose Turner girls much earlier than at present. We should
give better and more information to Turner parents, girls and women. We should
encourage and support Turner contact groups and take the initiative to strárt
more such groups in all countries. Treatment concerning all Turner related
disorders and problems should be offered at the apprpriate age to all Turner
girls and women. More research should be made concerning Turner syndrome (TS),
especially in relation to improvement of treatment and life conditions in
general. Turner research should be planned and carried out in cooperation with
Turner contact groups and Turner centers.
-
- Internet version for online viewing
or printing
- Follow-up study of 69 Turner women
by Bente Konradsen and Johannes Nielsen
- There
is a great need for follow-up studies of groups of Turner girls and Turner
women all through life.
From the Danish Turner Center we have recently made such a follow-up study of
97 Danish Turner women, 14 years after they were studied for the first time at
the mean age of 16 years.
At the follow-up they were between 23 and 44 years, with a mean age of 29
years.
-
- Internet version for online viewing
or printing
Other places to go:
There is a site in Texas about Turner's syndrome. It describes definitions, synonyms,
FAQs, Turner Societies in US, more links, newsgroup discussions, and conference
information.
Turner Website in Texas
There is a site in Maryland with general info about Turner
Syndrome and information pertaining to Clinical Trials in this area of research.
Turner
Syndrome
National Institute of Child Health and Human Development
National Institutes of Health
In Sweden there is a mailing list for XYY and Klinefelter:
"XXYlistan". Scroll the following page, and you will be able to join
the list.
XYY Listan, Svenska XYY &
Klinefelterförening
There is a general list of idealist organisations with a world wide database of
non-profit aid organisations called Idea-List:
Idea-List
There's a norwegian site on Turner's Syndrome:
The Center of Rare Disorders
There's a Dutch site on triple-X :
www.triple-x-syndroom.nl
Email us for comments and problems
Turner Center Homepage
|