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Kalanhodjaeva Shahnoza Bahtiyarovna, external degree candidate, Republican Specialized Scientific and Practical Medical Center of Endocrinology under the Ministry of Health of the Republic of Uzbekistan E-mail: sh_kalanhodjaeva@mail.ru
Khaidarova Feruza Alimovna, therapeutic work director, m.d., Republican Specialized Scientific and Practical Medical Center of Endocrinology under the Ministry of Health of the Republic of Uzbekistan
E-mail: alimovna@mail.ru
PSYCHOSOCIAL FACTORS OF QUALITY OF LIFE ASSOCIATED WITH HEALTH IN WOMEN WITH CONGENITAL ADRENAL HYPERPLASIA
Abstract: 27 women with congenital adrenal hyperplasia aged from 18 to 43 years old (mean age is 24.9 ± 6.8 years) were observed at the Republican Specialized Scientific and Practical Medical Center of Endocrinology under the Ministry of Health of the Republic of Uzbekistan. The control group consisted of 23 women.
The conducted studies showed that the lowest quality of life of people with congenital adrenal hyperplasia, not exceeding 50 points, was noted on the scales: role-physical functioning (in 74.1% of patients), general health (in 59.3% of patients), vitality (48.1% of patients). To a lesser extent, changes have affected the scale of bodily pain (22.2%). An integrated scale of the physical health below 50 points was noted in 66.7% of patients.
Keywords: Syndrome of hyperandrogenism, congenital adrenal hyperplasia, glucocorticoids.
Congenital adrenal hyperplasia refers to a group of dis- Materials and techniques.
eases with an autosomal recessive type of inheritance, caused A survey of 27 women with congenital adrenal hyper-
by a congenital defect in corticosteroid biosynthesis enzymes. plasia aged from 18 to 43 years (mean age 24.9 ± 6.8 years), Congenital adrenal hyperplasia in 95% of cases is associated with a deficiency of 21-hydroxylase. Deficiency of 21-hydrox-ylase leads to inadequate production of cortisol that causes excess production of adrenocorticotropic hormone and leads to congenital adrenal hyperplasia [4; 7; 8; 9; 10]. The classical form of congenital adrenal hyperplasia occurs on the average in 1:15000-16000 newborns, and the non-classical form - on the average in 1:1000 newborns [3; 14].
Treatment of patients with classical forms of congenital adrenal hyperplasia consists of life-long use of glucocorticoids (GC) and mineralocorticoids (in the case of salt-losing form of the disease) to prevent adrenal insufficiency and normalization of the increased level of androgen precursors [6; eleven; 18].
In recent decades, there has been an increase in the number of researches in the field of quality of life, since the researches in this field makes it possible to evaluate the complex effect of the disease on the life of the patient, compare the effectiveness of various therapies, predict the course of the disease, identify factors affecting quality of life, and influence them [1; 2].
The aim of the study is to research the psychosocial aspects of the quality of life of women with congenital adrenal hyperplasia on the background of therapy.
observed at the Republican Specialized Scientific and Practical Medical Center of Endocrinology under the Ministry of Health of the Republic of Uzbekistan. More than half (55.6%) of women were between the ages of 20 and 30. The control group included 23 women with a regular ovulatory menstrual cycle with no signs of hyperandrogenemia, the mean age was 31.3 ± 7.3 years.
All women signed consent for participation in the study. The diagnosis of congenital adrenal hyperplasia was established for women with a violation of menstrual and reproductive functions, with level of 17-hydrogsyprogesterone > 6 nmol/l and mutation of CYP21 gene.
All women with congenital adrenal hyperplasia were given substitution therapy with glucocorticoids and mineral corticoids. Dexamethasone (in a dose of 0.25-0.75 mg per day) or prednisolone (in a dose of 2-4 mg/day) was used for treatment. The effectiveness of treatment was evaluated after 6 months.
To assess the quality of life of patients, MOS36-Item Short-Form Health Survey (MOS SF-36) was used [19]. The 36 items of the questionnaire are grouped into eight scales: physical functioning (PF), role-physical functioning (RP),
bodily pain (BP), general health (GH), vitality (VT), social functioning (SF), role-emotional functioning (RE) and mental health (MH). The scores of each scale range between 0 and 100, where 100 mean that the patient is fully healthy. All scales form two categories: physical health (PH) and mental health (MH). The data for each category is calculated using a special unique key protected by International copyright [20]. The results are presented in the form of scores in 8 scales formulated in such a way that a higher score indicates a higher level of quality of life.
Mental health category of quality of life also included so-cio-demographic and anamnestic characteristics of women: age, education, marital status, social status.
The data obtained was processed using Statistica 6.0 and Biostat software. Quantitative scales are presented as mean ± standard deviation (M ± SD). The reliability of differences in the mean values was estimated using the Wilcoxon test. Differences between the groups were considered statistically significant atp < 0.05.
Results and discussion
After analysis of the data, it was found that a significant proportion of patients complained of headache (19-70.4%), excessive body hair growth (14-51.9%), excessive weight (8-29.6%), acne rashes (8-29.6%). From the anamnesis it is established that 6 (22.2%) of women were conceived by closely related partners. Hereditary load of diabetes was found
Table 1. - Scales of the physical and mental with congenital adrenal hyperplasia
in 7 (25.9%) women. The age of menarche on average was 13.6 ± 1.6 years. Early menarche was noted in 1 case (11 years), late menarche (14-18 years) in 12(44.4%) cases. Violation of the menstrual cycle was in 15(55.6%) ofthe patients. Violation of the menstrual cycle according to the type of opsoniformes and amenorrhea was noted respectively in 7(25.9%) and 8(29.6%) ofthe patients. 7(25.9%) women were pregnant before. The average number of pregnancies was 2.1 ± 1.6, 71.4% of all pregnancies ended with childbirth, 7.4% - with artificial abortions, 11.1% with spontaneous miscarriages.
The study of the social status ofwomen with congenital adrenal hyperplasia showed that the level of education of patients was mostly secondary-level and secondary professional education (17-63.0%), more than a quarter of patients had higher education (7-25.9%), and 3 women (11.1%) had no education. By social status, almost half (13-48.1%) had trade job, students and office employees were almost tied (5-18.5% and 6-22.2% respectively) and 3 women (11.1%) were housewives. By marital status, more than half of the patients were married (14-51.9%), more than a third (10-37.0%) were never married, 3 (11.1%) women were divorced. It should be noted that 5 (35.7%) married and 3 (66.7%) divorced women were childless.
As a result of the analysis of the quality of life scales in women with congenital adrenal hyperplasia, we found a significant decrease in the quality of life compared to the control group (Table 1.).
components of health quality of life in patients
(according to SF-36), shown in points
SF-36 Scales Control, n = 23 Before treatment, n = 27 After treatment, n = 27
Physical Functioning, PF 76.7 ± 9.0 50.2 ± 12.7* 64.9 ± 10.3#
Role-Physical Functioning, RP 74.5 ± 11.7 40.7 ± 11.7* 62.1 ± 11.5#
Bodily pain, BP 79.7 ± 8.8 56.0 ± 7.8* 53.1 ± 12.6#
General Health, GH 83.0 ± 8.4 47.0 ± 9.5* 61.6 ± 12.4#
Physical Health, GH 74.5 ± 5.7 46.1 ± 4.9* 57.4 ± 5.2#
Vitality, VT 83.7 ± 8.7 52.4 ± 12.5* 67.8 ± 13.3
Social Functioning, SF 86.3 ± 10.4 61.0 ± 11.6* 68.7 ± 11.7
Role-Emotional, RE 80.9 ± 9.9 53.6 ± 15.4* 66.2 ± 13.0
Mental Health (subcategory), MH 79.0 ± 10.0 54.3 ± 9.5* 69.9 ± 11.6
Mental Health (category), MH 78.4 ± 5.2 52.5 ± 8.5* 64.7 ± 7.8
Note: *p < 0.0001 reliability in relation to the control; #p < 0.<
The lowest quality of life scales in patients with congenital adrenal hyperplasia, not exceeding 50 points, were noted on the following scales: role-physical functioning (in 74.1% of patients), general health (in 59.3% of patients), and vitality (in 48.1% of patients). To a lesser extent, changes have affected the scale of bodily pain (22.2%). An integrated scale of the physical component of health below 50 points was observed in 66.7% of patients.
101 - reliability in relation to scales before treatment
Analysis of the components of the physical component of health showed that congenital adrenal hyperplasia influenced the ability to perform various physical functions (PF decrease compared to the control group by 34.5%), daily role-physical functions (RP - by 45.4%), daily activity (BP - by 29.7%), which reflected a decrease in the subjective assessment of patients' general health (GH - by 43.4%) (Fig. 1.).
Figure 1. Scales of the physical and psychological components of the quality of life of patients with congenital adrenal hyperplasia over time
The presence of clinical manifestations of congenital adrenal hyperplasia influenced the psychological component of health, the indices not exceeding 50 points were noted on the scale to be: role emotional functioning (in 44.4% of women), vital activity (in 37.0% ofwomen) and mental health (in 33.3% of women). Scale of the mental health of less than 50 points was observed in 40.7% of patients.
When analyzing the subcategories of mental health category, there was a significant decrease in the scale of vital activity, reflecting a subjective sense of happiness (by 37.4% lower compared to clinical control), role-emotional functioning (by 33.8%). A lowered VT level indicates that patients have problems (anxiety about their health, decreased mood), which have a significant negative impact on their social functioning (SF reduction by 29.3%) and daily role-playing activities. Self-assessment of their mental health decreased by 31.3%.
On the backdrop of the therapy, a significant increase in the RP scale was observed from the scales of the physical health category of quality of life health - by 52.5%, GH - by 8.2%, PF - by 29.4%, compared to the level before the treatment, the parameter BP also increased by 6.6%, but not by reliable margin.
When assessing the effect of glucocorticosteroid drugs on the scales of the mental health, a significant increase in the scales of VT (by 34.3%), RE (by 23.6%) and MH (by 33.7%) was noted.
The study of the main parameters of the quality of life over time makes it possible to judge the results of the course of therapy and evaluate social and psychological components that enable us to identify the most effective components in improving the physical and mental state of patients, which ultimately allows patients to participate in public life and realize their social importance.
In various studies using semi-structured interviews, a decrease in the quality of life in patients with a deficiency of 21-hydroxylase was found. The quality of life was influenced by the genotype and the surgical procedure that these women underwent. It is believed that the main reasons for the decline in quality of life in such patients are psychological trauma in connection with tedious diagnostic procedures, the chronic nature of the disease and psychological complications [13; 15; 16].
In comparison with healthy women with comparable age, marital status, education and professional status that make up a control group psychosocial identification was disrupted in 45 patients. Women with congenital adrenal hyperplasia noted a higher level of anxiety related to sexual contacts and relationships with partners, as well as due to changes in their physical appearance. However, as soon women of this group entered a relationship with a partner, they viewed their relationship with them as more stable and satisfactory than healthy women in the control population. The authors who conducted this study came to the conclusion that the overall level of quality of life was not affected [12].
A population study conducted in Norway using SF-36 Survey, revealed a reduction in the subjective assessment of the health status of adult patients with congenital adrenal hyperplasia [13]. The results of one of the cross-sectional studies involving adult patients with congenital adrenal hyperplasia using the same SF-36 survey in 17 endocrinology centers in the UK showed a significant reduction in the subjective health assessment. In the same study, elevated scores on the anxiety scale were measured in all patients with congenital adrenal hyperplasia and elevated scores on the depression scale in patients with classical hypertension [5]. Comparing with SF-36 a subjective assessment of the health status of adult patients with congenital adrenal hyperplasia
registered in two specialized centers in Germany showed a decrease in the vitality scale, but otherwise the subjective assessment of the quality of life of such patients was normal [17]. Therefore, the situation with psychosocial health and quality of life of women with congenital adrenal hyperplasia remains unclear. The results of various studies cannot be directly compared, because different domains of quality of life and well-being were evaluated in the course of these studies using various techniques. There is also the possibility that the observed differences in the assessment of the quality of life are the result of the sum of the specificity of congenital adrenal hyperplasia and the level of medical care provided.
It is necessary to study the onset and progression of decrease of the quality of life or a subjective assessment of the health status in childhood and adolescence.
Considering that patients respond differently to functional abnormalities, assessing the quality of life is as important as evaluating the most functional abnormalities, especially if we consider the outcome of treatment in a clinic. Until standardized assessment methods are developed that are highly sensitive to specific psychosocial aspects in patients with congenital adrenal hyperplasia and sexual dysfunction, physicians should use methods and scales for assessing the quality of life developed for use in other areas of chronic disease management.
References:
1. Амирджанова В. Н., Горячев Д. В., Коршунов Н. И. др. Популяционные показатели качества жизни по опроснику SF-36 (результаты многоцентрового исследования «Мираж»//Научно-практическая ревматология. 2008.- № 1.- С. 36-48.
2. Новик А. А., Ионова Т. И. Руководство по исследованию качества жизни в медицине. СПб.: Нева, 2002.- 320 с.
3. Рахимкулова А. А., Ахметова В. Л., Малиевский О. А., Хуснутдинова Э. К. Врожденная дисфункции коры надпочечников: поиск мутаций в гене CYP21A2 // Вестник Башкирского университета. 2013.- Т. 18,- № 4.- С. 1039-1041.
4. Солнцева А. В. Врожденная гиперплазия коры надпочечников у детей: Дефицит 21-гидроксилазы: учебн. пособие.-Минск: БГМУ, 2009.- 22 с.
5. Arlt W., Willis D., Wild S. et al. United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE). Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients // J Clin Endocrinol Metab.-2010.- Vol. 95(11).- P. 5110-5121.
6. Costa-Barbosa F., Telles-Silveira M., Kater C. Congenital adrenal hyperplasia in the adult women: management of old and new challenges // Arquivos Brasileiros de Endocrinologia & Metabologia. 2014.- Vol. 58(2).- P. 124-131.
7. Ganie Y., Aldous C., Balakrishna Y., Wiersma R. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa // S Afr Med J. 2018.- Vol. 108 (2).- P. 132-137.
8. Gialluisi A., Menabo S., Baldazzi L. et al. A genetic epidemiology study of congenital adrenal hyperplasia in Italy // Clin Genet. 2018.- Vol. 93(2).- P. 223-227.
9. Grodnitskaya E., Kurtser M. The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism // Hum Fertil (Camb). 2017.- Vol. 3.- P. 1-6.
10. Haider S., Islam B., D' Atri V. et al. Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia // Proceedings of the National Academy of Sciences. 2013.- Vol. 110(7).- P. 2605-2610.
11. Han T., Stimson R., Rees D. et al. Glucocorticoid treatment regimen and health outcomes in adults with congenital adrenal hyperplasia // Clin Endocrinol (Oxf). 2013.- Vol. 78(2).- P. 197-203.
12. Kuhnle U., Bullinger M., Schwarz H. The quality of life in adult female patients with congenital adrenal hyperplasia: a comprehensive study of the impact of genital malformations and chronic disease on female patients life // Eur J Pediatr. 1995.- Vol. 154(9).- P. 708-716.
13. Nermoen I., Husebye E., Svartberg J., Lovás K. Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway // Eur J Endocrinol. 2010.- Vol. 163(3).- P. 453-459.
14. Nimkarn S., Lin-Su K., New M. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia // Endocrinology & Metabolism Clinics of North America. 2009.- Vol. 38(4).- P. 699-718.
15. Nordenskjold A., Holmdahl G., Frisén L. et al. Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia // J Clin Endocrinol Metab. 2008.- Vol. 93(2).- P. 380-386.
16. Reisch N., Hahner S., Bleicken B. et al. Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency // Clin Endocrinol (Oxf). 2011.-Vol. 74(2).- P. 166-173.
17. Reisch N., Arlt W., Krone N. Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency // Horm Res Paediatr. 2011а.- Vol. 76(2).- P. 73-85.
18. Speiser P., Azziz R., Baskin L. et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline // J Clin Endocrinol Metab. 2010.- Vol. 95(9).- P. 4133-4160.
19. Ware J., Sherbourne C. The MOS36-Item short-form health survey (SF-36): conceptual framework and item selection. Med. Care, 1992.- Vol. 30.- No. 6.- P. 473-483.
20. Ware J., Kosinski M., Gandek B. SF-36® Health Survey: Manual & Interpretation Guide.- Lincoln, RI: QualityMetric Incorporated, 2005.- 312 p.
