Turner And Klinefelter Treatment Target study

Health Related Quality of life (HRQoL) is impaired in patients with Turner
(1-5) and Klinefelter syndrome (6-8) (TS and KS). It is unknown what the
optimal endocrine values are that maximize HRQoL in patients with these
syndromes. Therefore we will study the relation between HRQoL and biochemical
parameters in for this rare syndromes relatively large cohorts of patients with
TS and KS. This information will give us essential insight that will help us
improve endocrine treatment and HRQoL in these patients.

Hypothesis: Biochemical parameters are related to HRQoL in patients with TS and
KS.

References:
1. Amedro P, Tahhan N, Bertet H, Jeandel C, Guillaumont S, Mura T, et al.
Health-related quality of life among children with Turner syndrome: controlled
cross-sectional study. J Pediatr Endocrinol Metab. 2017;30(8):863-8.
2. Nadeem M, Roche EF. Health-related quality of life in Turner syndrome and
the influence of key features. J Pediatr Endocrinol Metab. 2014;27(3-4):283-9.
3. Ros C, Alobid I, Balasch J, Mullol J, Castelo-Branco C. Turner's syndrome
and other forms of congenital hypogonadism impair quality of life and sexual
function. Am J Obstet Gynecol. 2013;208(6):484.e1-.e6.
4. La¨aite L, La¨iene D, La¨as L. Cognition, emotions and quality of life in
Lithuanian girls with Turner syndrome after growth hormone therapy
discontinuation. J Pediatr Endocrinol Metab. 2010;23(5):443-50.
5. Amundson E, Boman UW, Barrenäs ML, Bryman I, Landin-Wilhelmsen K. Impact of
growth hormone therapy on quality of life in adults with turner syndrome. J
Clin Endocrinol Metab. 2010;95(3):1355-9.
6. Herlihy AS, McLachlan RI, Gillam L, Cock ML, Collins V, Halliday JL. The
psychosocial impact of Klinefelter syndrome and factors influencing quality of
life. Gen Med. 2011;13(7):632-42.
7. Skakkebaek A, Moore PJ, Chang S, Fedder J, Gravholt CH. Quality of life in
men with Klinefelter syndrome: the impact of genotype, health, socioeconomics,
and sexual function. 2017.
8. Close S, Fennoy I, Smaldone A, Reame N. Phenotype and Adverse Quality of
Life in Boys with Klinefelter Syndrome. J Pediatr. 2015;167(3):650-7.

To explore the relationship between hormone levels and HRQoL in patients with
TS and KS.

Study design:
Cross-sectional, observational, multicentre study

Methods and procedures:
To measure fatigue we will use the Checklist Individual Strength (CIS-20), for
HRQoL we use the 5-level EQ-5D (EQ-5D-L5) and for stress the Perceived Stress
Scale (PSS) and hair cortisol levels. For patients with KS we will also use the
anxiety scale from the Liebowitz social anxiety scale (LSAS) to measure social
anxiety. For patients with KS, all questions from the questionnaires will be
discussed orally during a visit to the outpatients clinic. One extra tube of
blood and a strand of hair will be collected during routine blood withdrawal.
All other variables are already part of the standard patient care and are
available in patient records. For patients with TS all information is already
available and will be collected from clinical records.

For patients with KS: There are no risks associated with participation. All
measurements will take place right after a planned visit at the outpatients
clinic. All subjects with KS need to answer questions from four questionnaires,
which will take about 30 minutes (including collection of informed consent).
The biochemical parameters we measure are already routinely assessed during the
visits to the outpatients clinic. We only need to collect and store one extra
tube of blood. Blood will be collected during blood withdrawal for the
assessment of laboratory values needed for standard care. We will also collect
one strand of hair to assess hair cortisol levels. The burden is therefore
minimal.

For patients with TS: For patients with TS all information is already available
and we do not need any additional measurements for these patients. Therefore
there will not be any burden or risk.

There is no direct benefit for the participants, but all patients with KS and
TS could benefit from better hormonal treatment in the future due to the
results of this study. When the questionnaires indicate severe psychological
problems, we will offer psychological care.