Mini-Review
Research on Quality of Life in Female Patients with Congenital Adrenal Hyperplasia and Issues in Developing Nations

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Abstract

Congenital adrenal hyperplasia (CAH) is the commonest cause of ambiguous genitalia for female newborns and is one of the conditions under the umbrella term of “Disorders of Sex Development” (DSD). Management of these patients require multidisciplinary collaboration and is challenging because there are many aspects of care, such as the most appropriate timing and extent of feminizing surgery required and attention to psychosexual, psychological, and reproductive issues, which still require attention and reconsideration, even in developed nations. In developing nations, however, additional challenges prevail: poverty, lack of education, lack of easily accessible and affordable medical care, traditional beliefs on intersex, religious, and cultural issues, as well as poor community support. There is a paucity of long-term outcome studies on DSD and CAH to inform on best management to achieve optimal outcome. In a survey conducted on 16 patients with CAH and their parents in a Malaysian tertiary center, 31.3% of patients stated poor knowledge of their condition, and 37.5% did not realize that their medications were required for life. This review on the research done on quality of life (QOL) of female patients with CAH aims: to discuss factors affecting QOL of female patients with CAH, especially in the developing population; to summarize the extant literature on the quality of life outcomes of female patients with CAH; and to offer recommendations to improve QOL outcomes in clinical practice and research.

Introduction

Congenital adrenal hyperplasia (CAH), an autosomal recessive disorder, is caused by genetic impairment of one of the 5 enzymes required for the biosynthesis of cortisol from cholesterol in the adrenal cortex. The most frequent enzyme deficiency in CAH is steroid 21-hydroxylase deficiency (21-OHD), accounting for more than 90% of cases.1 The range of incidence for this condition is from 1:10,000 to 1:20,000 births and it is more prevalent in some ethnic groups (e.g., Alaskan Yupiks).2, 3, 4, 5 CAH is the commonest cause of ambiguous genitalia for female newborns and is one of several conditions under the umbrella term “Disorders of Sex Development” (DSD).

DSD refers to “congenital conditions in which the development of chromosomal, gonadal, or anatomic sex is atypical.”6 Management of DSDs require multidisciplinary collaboration and is challenging, to say the least. To date there has been a resurgence in research performed on these patients. One of the aspects of management brought up by those involved in the care of patients with DSDs are the need for more attention to be focused on the psychological aspects and quality of life of those affected.6, 7, 8 There is a paucity of long-term outcome studies on DSD to inform on whether current management achieves optimal outcome.9 This review on the research done on quality of life (QOL) of female patients with CAH aims to address the following issues: (1) to discuss possible factors affecting quality of life (QOL) of female patients with CAH, especially in the developing population; (2) to summarize the extant literature on the quality of life outcomes of female patients with CAH; and (3) to offer recommendations to improve QOL outcomes in clinical practice and research.

Section snippets

Clinical Factors

A spectrum of phenotypes can be seen in 21-OHD; from the severe classical salt-wasting (SW) form, to the classical less severe simple-virilizing (SV), and to the non-classical forms (NC-CAH) which manifest during early adolescence.10 All female patients with classical 21-OHD exhibit ambiguous external genitalia. Approximately two-thirds of patients with classical CAH due to 21-OHD have insufficient aldosterone biosynthesis, leading to salt-wasting crises postnatally.3 This is characterized by

Further Challenges Faced by Female CAH Patients in Developing Asian Nations

Added to the issues already mentioned, in several countries of the developing world, the CAH patients face poverty, ignorance, poor basic medical knowledge, lack of psychological services, and inadequate laboratory support, as well as lack of appropriate, affordable medications.82 Specialists in pediatric endocrinology are very few in number in many countries, including Malaysia. These countries do not have newborn screening programs; hence, late presentations and delayed diagnoses occur.

Quality of Life

In 1993, the World Health Organization defined quality of life (QOL) as “an individual's perception of their position in life in the context of the culture and value systems in which they live, and in relation to their goals, expectations, and standards and needs. It is a broad ranging concept affected in a complex way by the person's physical health, psychological state, level of independence, social relationships, and their relationships to salient features of their environment.”92 Quality of

Quality of Life Research Done on CAH patients

A summary of studies investigating quality of life of patients with CAH are shown in Table 1.47, 96, 97, 98, 99, 100, 101, 102, 103, 104, 105, 106, 107 As can be seen, different research designs were employed; qualitative or quantitative or a combination of both. Many different questionnaires were used to assess quality of life in different studies; however, the Medical Outcomes Survey 36-item short form health survey (SF-36) was used in four of them.101, 102, 103, 104 The age ranges in these

Recommendations

The common recommendation is that CAH patients be managed by multidisciplinary teams in a tertiary center accessible to all comprising endocrinologists, gynecologists, geneticists, psychologists, pathologists, ethicists, urologists, specialist nurses, and even support groups.104, 105, 108, 109, 110 This provides for optimal care and will improve considerably the quality of lives of patients and their families. However, due to limited resources, the formation of these multidisciplinary teams in

Acknowledgments

The authors thank Dr. Srijit Das, Faculty of Medicine, UKM, for writing assistance and encouragement.

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