The Turkish Journal of Pediatrics
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Adult height in Turkish patients with Turner syndrome without growth hormone treatment
Abdullah Bereket1, Serap Turan1, Nursel Elçioğlu1, Seniha Hacıhanefioğlu2 Nihal Memioğlu3, Firdevs Baş4, Rüveyde Bundak4, Feyza Darendeliler4, Hülya Günöz4 Nurçin Saka4, Oya Ercan5, İlknur Arslanoğlu6, Pınar İşgüven6, Metin Yıldız6, Şule Can7 Ebru Özerkan7, Mahmut Çoker8, Şükran Darcan8, Behzat Özkan9, Zerrin Orbak9 Sıtkı Öztaş9, Şükrü Palandüz4, İlhan Sezgin10, Emre Atabek11 İbrahim Erkul11, Gürbüz Erdoğan12
1Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Turkey
2Departments of Genetics, İstanbul University Cerrahpaşa Faculty of Medicine, İstanbul, Turkey
5 Departments of Pediatrics, İstanbul University Cerrahpaşa Faculty of Medicine, İstanbul, Turkey
4Department of Pediatrics, İstanbul University İstanbul Faculty of Medicine, İstanbul, Turkey
3Division of Pediatric Endocrinology, Department of Pediatrics, Şişli Etfal State Hospital, İstanbul, Turkey
6Goztepe State Hospital, İstanbul, Turkey
7Tepecik State Hospital, İstanbul, Turkey
8Department of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey
9Departments of Pediatrics, Atatürk University Faculty of Medicine, Erzurum, Turkey
10Department of Medical Genetics, Cumhuriyet University Faculty of Medicine, Sivas, Turkey
11Department of Pediatrics, Selçuk University Faculty of Medicine, Konya, Turkey
12Department of Endocrinology, Ankara University Faculty of Medicine, Ankara, Turkey
|SUMMARY: Bereket A, Turan S, Elçioğlu N, Hacıhanefioğlu S, Memioğlu
N, Baş F, Bundak R, Darendeliler F, Günöz H, Saka N, Ercan O, Arslanoğlu
İ, İşguven P, Yıldız M, Can Ş, Özerkan E, Çoker M, Darcan Ş, Özkan B, Orbak
Z, Öztaş S, Palandüz Ş, Sezgin İ, Atabek E, Erkul İ, Erdoğan G. Adult height
in Turkish patients with Turner syndrome without growth hormone treatment.
Turk J Pediatr 2008; 50: 415-417.
Spontaneous adult height (AH) in Turner syndrome (TS) varies among populations.
Population-specific AH data is essential to assess the efficacy of growth-promoting
therapies in TS. A multicenter study was performed to establish AH of nongrowth
hormone (GH)-treated Turkish patients with TS.
One hundred ten patients with TS (diagnosed by karyotype) who reached AH
(no growth in the previous year, or bone age >15 years) without receiving
GH treatment were included in the study.
The average AH was found to be 141.6±7.0 cm at the age of 22.9±6.2 years,
which is 18.4 cm below the population average and 16.4 cm below the patients'
mid-parental heights. Bone age at start of estrogen replacement was 12.3±1.3 year.
Karyotype distribution of the patients was 45X (43%), 45X/46XX (16%), 45X/46Xi
(12%), 45XiXq (10%) and others (19%). When the patients were evaluated
according to their karyotype as 45X and non-45X, no significant difference in
AH was observed (142.4±6.9 cm vs 140.9±7.1 cm, respectively).
Adult height of non-GH-treated Turkish TS patients obtained in this study was
comparable to that of other Mediterranean populations, but shorter than that of
Northern European patients. Karyotype does not seem to affect AH in TS.
Turner syndrome, final height, adult height, karyotype, growth, growth hormone.
|Turner syndrome (TS) affects about one in
1,500 to 2,500 live-born females. One of
the most prevalent and salient features of
the syndrome is short stature. Untreated
women are approximately 20-21 cm shorter
than normal women within their respective
populations, and the median adult height
varies between 136 and 147 cm[1-10]. Although
a classical deficiency of growth hormone
(GH) has not been generally demonstrated,
recombinant human growth hormone (hGH)
has been used to increase growth and final
height in girls with TS. In order to assess
the efficacy of height-promoting therapies in
TS, population-specific adult height data is
needed in patients with TS who did not receive
such therapies. Adult heights of Turkish TS
patients without GH treatment have not been
determined previously. A multicenter study was
performed to establish such data in Turkish
patients with TS.|
|Material and Methods |
|An invitation letter to participate in this study
and study forms were sent to pediatric and
adult Endocrinology, Gynecology and Genetics
Departments of major university and teaching
hospitals in Turkey. Information was requested
for TS patients (diagnosed by karyotype) who
reached adult height and never received GH
treatment. Patients were accepted as reaching
final height if there was no growth in the
previous year, or if the bone age was >15 years.
Standardized study forms were completed by
the participating centers and transferred to the
study coordinator (A.B.). These forms included
questions about the karyotype, final height,
chronological age, bone age, treatments received,
age of initiation of estrogen treatment, parental
heights, birth weight of the patient, and other
relevant data. Sixteen centers participated by
sending information about their patients. Data of
110 patients from 12 centers met the inclusion
criteria (diagnosis of TS by karyotype, adult
height attainment, and never treated with GH)
and are presented here.|
|A total of 134 patients were reported to the
study coordinator. Twenty-four patients were
excluded from the final analysis because of
bone age equal to or less than 15 years.
Thus, 110 patients from 12 centers were
included in the final analyses. Mean age of
the patients at the measurement of adult
height was 22.9±6.2 years (range 16-44 years).
The average adult height was 141.6±7.0 cm.
Karyotype distribution of the patients was
as follows: 45X (43%), 45X/46XX (16%),
45X/46Xi (12%), 45XiXq (10%), and others
(19%). Analyses of the adult height according
to the patients' karyotypes demonstrated no
significant difference between those with
karyotype of 45X and the others (142.4±6.9
cm vs 140.9±7.1 cm, respectively). However,
18 patients with 46, X i(Xq) karyotype in our
study had a final height slightly shorter than
the rest of the patients, although without
statistical significance (139.3±6.8 vs 142.1±7.0,
Mean birth weight of the patients was 2482±922
g. Final height was correlated with birth weight
(r: 0.657, p<0.005). Mid-parental height had
been reliably obtained only in 33 patients and
was 158±4.6 cm. There was no correlation
between final height and mid-parental height.
Mean bone age at start of estrogen treatment
was available for 16 patients and was 12.3±1.3
years. No correlation was detected between
the age of initiation of estrogen treatment
and final height.
|Adult height of non-GH-treated Turkish TS
patients found in this study (141.6 cm) was
comparable to that of other Mediterranean
populations (France 141-142.5 cm, Italy
142.5 cm) but shorter than that of Northern
European (146.9 cm) patients[1-4,7]. Studies
from numerous countries have demonstrated
that women with TS are approximately 20 cm
shorter than the population average[1-10]. Naeraa
et al. demonstrated that mean final height
was 146.8 cm in 76 TS women compared to
166.8 cm in the general female population in
Denmark. The average adult height of healthy
women in the Turkish population is 160 cm.
Thus, the adult height of TS patients found in
the present study is 18.4 cm (-3.1 SDS) below
the population average and 16.4 cm (-2.8 SDS)
below their mid-parental target height. The
reason for a smaller difference between TS and
normal women in our study can be explained
by the effect of secular trend. Growth charts
currently being used in Turkey were developed
33 years ago. Since then, a secular trend in
height (0.96 cm/decade) was observed in the
Turkish population between 1973 and 1997.
Karyotype did not make any difference with
respect to adult height in our study. This
was also the conclusion of many reports in
the past[7,9]. However, a recent Mexican study
showed that adult height of TS patients was
136.9±5.5 cm in general, but that it was
affected by the particular karyotype: 46,Xi(Xq):
134.5 cm, 45,X: 137.3 cm, and 45X/46,XX:
139 cm. The mean final height of Chinese
patients with TS was 142 cm, and patients
with the 46, X, i(Xq) karyotype were found to
be significantly shorter. Similar results were
obtained in a mixed group of Italian and Israeli
patients with TS, in whom a deletion of the
entire Xp segment [46,X,i(Xq)] was associated
with the shortest height (median height 134.5
vs 142.5 for the rest of the patients). Results
of these studies demonstrate that patients with
TS who were disomic for Xp are significantly
taller than patients who were monosomic for
Xp. In line with the above-mentioned studies,
18 patients with 46, X i(Xq) karyotype in our
study had a final height slightly shorter than the
rest of the patients, although without statistical
The timing of estrogen treatment was not
influential in final height of the patients with
TS in the absence of GH therapy in our study. In
the study of Page, comparison of patients with
spontaneous and induced puberty to assess
the effect of endogenous estrogen secretion
on the final heights of patients with TS also
revealed the same conclusions. Physiological
and subphysiological endogenous secretion of
estrogen in TS did not increase final height.
Age of menarche showed no correlation with
final height. Similarly, Sybert reported no
significant deleterious effect on height with
earlier induction of puberty with estrogens. The
age at onset of puberty was not related to final
height in GH-treated patients as well.
Birth weight appeared to significantly influence
final height in patients with TS in our study. This
correlation was also observed by Naeraa et al.
However, mid-parental height did not correlate
with final height in our study. This is most likely
due to the sparse mid-parental height data in
our study. Parental height and patient heights
correlated significantly in the study of Rochiccioli
et al. It has been reported that correlations
between final height and parental heights, birth
weight and birth length in women with TS were
similar to those reported for normal women.
which include collection of data from only the
responding centers, as well as insufficient data
regarding the timing of estrogen treatment and
the influence of parental heights on the final
height of the patients. However, the present data
provides for the first time the final height of a
large group of Turkish patients with TS without
GH treatment. Adult height of non-GH-treated
Turkish TS patients obtained in the present
study was similar to that of other Mediterranean
populations and was not influenced by karyotype.
Difference between adult height in patients with
TS and the normal population was slightly
less than that described in other countries,
most likely due to secular trend. Since most
children with TS currently receive GH therapy,
this data will serve as a historical control group
for assessment of growth–promoting therapies
in our population.
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