ISSN: 1679-9941 (Print), 2177-5281 (Online)
Official website of the journal Adolescencia e Saude (Adolescence and Health Journal)

Vol. 4 No. 2 - Apr/Jun - 2007

Study of the initial complaint in patients with Turner syndrome

Keywords: Turner syndrome; short stature; clinical features; diagnosis
Abstract

Abstract:
Introduction: Turner syndrome (TS) is characterized by short stature, stigma, and delayed puberty in most patients. Objectives: To verify and rationalize the main motivations that encouraged patients to seek treatment. Methodology: The medical records of 44 patients with TS, diagnosed by karyotype, were collected regarding the age of diagnosis and the complaint that motivated the search for medical services. Results: The age of diagnosis ranged from the prenatal period to 20 years of age; the most common complaint was short stature (57%). All children up to 5 years of age had stigma as their main complaints. From this age onwards, the initial complaints were short stature and pubertal delay. Conclusions: The main complaint presented is short stature alone (mainly between 10 and 15 years of age) or associated with other complaints. During adolescence, growth deficit and pubertal delay become more evident, motivating the search for medical services.

Abstract:
Introduction: The Turner syndrome is a genetic disorder characterized by external dimorphism, short stature and delayed puberty in the majority of patients. Objective: To study the main initial complaint. Patients and method: Review on 44 medical records with diagnosis of Turner syndrome confirmed by karyotype analysis. Age at diagnosis and initial complaint were the information collected. Results: The ages at diagnosis varied from pre-natal period until 20 years of age; the main complaint was short stature (57%). All children under the age of 5 had dimorphism as the only complaint. In childhood and adolescence, short stature, delayed puberty or both were the main complaints. Conclusion: Short stature is the main feature (especially between 10 and 15 years old), either isolated or associated with other complaints. In adolescence deficient growth and delayed puberty become more evident, promoting the search for medical care.

INTRODUCTION

Turner syndrome (TS), described by Henry Turner in 1938, is cytogenetically characterized by a normal X chromosome and the total or partial loss of the second sex chromosome. The various signs presented by TS carriers are skeletal growth disorders, such as short stature, cubitus valgus and genu valgum , germ cell anomalies (primary hypogonadism and sterility), lymphedema, among others(1,2).

This syndrome is one of the most frequent chromosomal alterations in females and occurs in a proportion of approximately 1:2,500 live births(3). The clinical picture is evidenced by short stature, genital infantilism, malformations and various stigmas, and may also be associated with morbidity resulting from congenital anomalies, more prevalent diseases, lack of treatment or treatment itself, aging(4), and impairment of other organs and systems (such as bone impairment, especially osteoporosis)(5). In addition, there are observations of shorter life expectancy in this syndrome than in the general population(6).

TS causes complications such as a high incidence of diseases (hypertension, otitis, autoimmune, renal and cardiac diseases, among others) and lower life expectancy(4,6). Appropriate treatment can help delay premature aging in patients, in addition to reducing the risk of cardiovascular diseases and osteoporosis. Thus, the present study aims to collect, rationalize and organize the main motivations that encouraged patients to seek treatment at the Clementino Fraga Filho University Hospital (HUCFF) and the Martagão Gesteira Institute of Childcare and Pediatrics (IPPMG) of the Federal University of Rio de Janeiro (UFRJ).

CASUISTRY AND METHODOLOGY

Information from the medical records of 44 patients with TS was collected, recording the ages at diagnosis and the main complaint. The patients were grouped according to the age at diagnosis every five years from birth. Then, the information was counted and totaled, calculating the absolute and relative frequencies of the patients distributed by age groups, by the complaints presented and by the complaints reported in each age group.

RESULTS

The age at diagnosis varied from birth to 20 years, and Table 1 shows the distribution by age group and the initial complaint. Figure 1 shows the main complaints and their percentages, and Figure 2 shows the types of complaints, distributed by age group. It is important to emphasize that more than one complaint and/or stigma may have motivated the search for medical treatment. The stigmas that motivated the search for a doctor were: lymphedema (9.8%), lymphedema and webbed neck together (5.88%) and heart disease (1.96%).


Figure 1 – Frequency of complaints at the first consultation Figure 2 – Distribution of age group

DISCUSSION

It was found that in more than half of the patients, the diagnosis occurred between 10 and 20 years of age, but it could have been made during intrauterine life, in those who presented cystic hygroma and other characteristic malformations, by ultrasonography(7). The predominant complaint in all age groups is short stature. This is due to the fact that growth in the first years of life is the main contributor to the final deficit in height(8). This leads us to conclude that most diagnoses are made late, only after the first decade of life.

In addition, patients frequently complain of delays related to pubertal development, together with or separately from short stature, especially between the ages of 15 and 20. Although the complaints are verified at this age, it cannot be denied that the problems could already have manifested themselves, such as those related to the physical growth of the patients, before the age of 10, which reinforces the hypothesis of excessive delay in seeking medical care(9).

One possible explanation for this late search for medical care is that sexual development normally occurs between 10 and 15 years of age, which, combined with the patient’s continued low physical development, raises concerns for the girl and her guardians. Thus, the combined presence of these two factors is the determining factor in seeking specialized medical care.

It is also necessary to seek a plausible explanation for the significant number of diagnoses made when the patients are under 5 years of age. In these cases, it was observed that the evidence that led to suspicions was not, in any case, developmental deficiencies, but stigmas, such as lymphedema in the hands and/or feet at birth and excess skin in the cervical region, among others. These are such obvious reasons that they could not go unnoticed by the children’s guardians.

Our results are similar to those presented by Lars Sävendahl and Marsha Davenport, who sought to correlate in their study the delay between the occurrence of growth failure and the diagnosis of the syndrome. Short stature stands out as key to 82% of diagnoses in adolescence (which represents, according to them, a delay of 7.7 ± 5.4 years), and the presence of lymphedema, as a determinant for 97% of diagnoses in childhood(10).

Rickert et al., in a study conducted with American women with the syndrome, indicated 6.8 years as the main age of diagnosis. This fact presents some difference from the present study and can be explained by the socioeconomic disparities that exist between the two countries(11). Gerard Conway, in a study with patients with the syndrome in London, presented similar results, noting that the greatest number of diagnoses occurs in adolescence, due to the presence of short stature, pubertal delay or primary amenorrhea(3). Similarly, in a study of a Danish group, 33.2% of the girls were diagnosed in adolescence(12).

Analysis of the data shows short stature as an important factor for the diagnosis of Turner syndrome. Although it can be observed during all phases of life, the growth deficit was mainly present in the adolescent age group. During this period there is great concern with physical appearance, which can lead to a high degree of dissatisfaction, social rejection and also depression. Therefore, physicians should be aware not only of physiological treatment, but also of the possible need for psychological treatment of patients(11).

Another important fact to be considered is late diagnosis, since this syndrome implies a series of morbidities and apparent aesthetic deficiencies. Thus, the highly detrimental nature of delayed diagnosis is reinforced, as it reduces the effects of therapy to alleviate deficiencies in physical and pubertal development and shortens the prevention time of some diseases that may appear associated with the syndrome.

Bibliographic References

1. Ranke, Michael B, Saenger P. Turner’s syndrome. Lancet. 2001;358:309-14.

2. Costa AMG, Lemos-Marini SHV, Baptista MTM, et al. Bone mineral density: a cross-sectional study in patients with Turner syndrome. Arq Bras Endocrinol Metabol. 2002;46(2):143-9.

3. Conway GS. The impact and management of Turner’s syndrome in adult life. Best Pract Res Clin Endocrinol Metab. 2002;16(2):243-61.

4. Guimarães MM, Guerra CTG, Alves STF, et al. Clinical complications in Turner syndrome. Arq Bras Endocrinol Metabol. 2001;45(4);331-8.

5. Lazaretti-Castro M, Verreschi ITN. Bone mineral density and Turner syndrome. Arq Bras Endocrinol Metabol. 2002;46(2):124-6.

6. Price WH, Clayton JF, Collyer S, Del Mey R, Wilson J. Mortality ratios, life expectancy, and causes of death in patients with Turner’s syndrome. J Epidemiol Community Health. 1986;40:97-102.

7. Papp C, Beke A, Mezei G, Szigeti Z, Ban Z, Papp Z. Prenatal diagnosis of Turner syndrome: report on 69 cases. J Ultrasound Med. 2006;25(6):711-7.

8. Even L, Cohen A, Brand M, Kauli R, Sippell W, Hochberg Z. Longitudinal analysis of growth over the first 3 years of life in Turner’s syndrome. J Pediatr. 2000;137(4):460-4.

9. Gravholt CH. Clinical practice in Turner syndrome. Nat Clin Pract Endocrinol Metab. 2005;1(1):41-52.

10. Sävendahl L, Davenport ML. Delayed diagnoses of Turner’s syndrome: proposed guidelines for change. J Pediatr. 2000;137:455-9.

11. Rickert V, et al. The effects of peer ridicule on depression and self-image among adolescent females with Turner syndrome. J Adolescent Health. 1996;19:34-8.

12. Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006;91(10):3897-902.

1. Medical Students; scientific initiation scholarship holders from the Rio de Janeiro State Research Support Foundation (FAPERJ).
2. Master’s and PhD in Medicine and Endocrinology from the Federal University of Rio de Janeiro (UFRJ).
3. PhD in Medicine, area of ​​Endocrinology; Assistant professor at the Faculty of Medicine of UFRJ.