Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care

Abstract

Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, tumor, osteoporosis, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers. Psychosocial issues frequently affect adherence to glucocorticoid treatment. Therefore, the safe transition of adolescents to adult care requires regular follow-up of patients by a multidisciplinary team including pediatric and adult endocrinologists. The major goals for management of adults with 21-hydroxylase deficiency are to minimize the long-term complications of glucocorticoid therapy, reduce hyperandrogenism, prevent adrenal or testicular adrenal rest tumors, maintain fertility, and improve quality of life. Optimized medical or surgical treatment strategies should be developed through coordinated care, both during transition periods and throughout patients' lifetimes. This review will summarize current knowledge on the management of adults with CAH, and suggested appropriate approaches to the transition from pediatric to adult care.

The use of medical identification jewellery in adults with adrenal insufficiency in Australia

“…While PAI was the predominant patient group in this analysis, there were comparatively few patients who reported a diagnosis of CAH. Moreover, a record of this specific diagnosis diminished with the increasing age of the patient, supporting the common belief that patients with CAH receive intensive medical care in early life but have difficulties maintaining this when they move from the paediatric to the adult setting . Although the incidence of CAH is equal between the genders, there were more women who were subscribers with a diagnosis of CAH than men, suggesting greater engagement with medical services among affected females.…”

Pubertad precoz por hiperplasia adrenal congénita. Reporte de caso

“…Such decrease generates negative feedback in the pituitary gland with a consequent ACTH overproduction and subsequent stimulation of the adrenal gland, which in turn causes hyperplasia. 8 About 95% of CAH cases are caused by a 21-hydroxylase deficiency 8,9 due to the mutation of the CYP21A2 gene. There are 2 forms of presentation: classic and non-classic.…”

“…Glucocorticoids are administered for the treatment of non-classic CAH in patients with accelerated bone age, virilization, and premature or rapid progression pubarche. 9,17,18 Some of the objectives of this treatment in girls are achieving adequate growth rate and the proper onset of puberty, as well as avoiding accelerated skeletal maturation, the reduction of the expected mid-parental height, and psychological alterations. In adolescents, the treatment aims to avoid irregular menstrual cycles, hirsutism, and acne.…”

Fertility counseling and preservation: considerations for the pediatric endocrinologist

“…Both men and women with congenital adrenal hyperplasia (CAH) may experience fertility problems, with the extent depending on the severity of disease/disease control (60). In women, elevated androgens result in anovulatory cycles and polycystic ovarian syndrome (61). In men, elevated androgen feedback causes decreased gonadotropin production, ultimately resulting in a decrease in sperm production (61).…”

“…In women, elevated androgens result in anovulatory cycles and polycystic ovarian syndrome (61). In men, elevated androgen feedback causes decreased gonadotropin production, ultimately resulting in a decrease in sperm production (61). Testicular adrenal rests are also common in males with CAH and are known to impact fertility; routine counseling and ultrasound screening has been recommended (62).…”