Patients with various disorders of sex development generally report being satisfied with hormone therapy, but survey responses regarding adverse events, knowledge of treatment combinations and the best age to initiate therapy show that more individualized treatment is needed.
“Understanding the purpose and effects, as well as the side effects, of the treatment is central for the patients to remain motivated to take their medication,” Anna Nordenstrom, MD, PhD, associate professor in the department of women’s and children’s health at the Karolinska Institute in Stockholm, and colleagues wrote. “Information needs to be given repeatedly and be tailored to the different phases of the individuals’ life. This study shows that the information can be improved and that patients should be better informed about the psychological and somatic side effects that may occur. An open discussion between the patient and the doctor about the effects and symptoms is the basis for improvement and individualization of the treatment.”
Nordenstrom and colleagues analyzed data from 1,040 adolescents and adults with disorders of sex development, including women with Turner syndrome (n = 346), Klinefelter syndrome (n = 225), XY disorders of sex development (n = 243) and congenital adrenal hyperplasia (n = 226), participating in the dsd-LIFE study, a cross-sectional study across 14 European centers in six countries specializing in disorders of sex development. Researchers reviewed medical records for HT data and information from the patient-reported outcome questionnaire for the dsd-LIFE study. Questions assessed satisfaction with HTs, adverse events, information regarding treatment choices and risks, and feelings regarding the age of therapy initiation.
Among patients with Turner syndrome, Klinefelter syndrome, XY disorder of sex development and congenital adrenal hyperplasia, 77.4%, 77.4%, 59.3% and 31.1%, respectively, were prescribed HT. Most patients reported they were “very satisfied” with current HT. The most common adverse events were weight gain, impaired psychological well-being and sexual adverse events.
In assessing adherence, researchers found that only 10% had stopped estrogen therapy and 5% stopped testosterone therapy completely.
“Among the 38% that had discontinued the therapy for a period of time or completely, the most common reason was side effects (in 26.5%) or no effect (12%), but forgetting to take the medication was also relatively common (12%),” the researchers wrote.
The researchers noted a “considerable discrepancy” between physicians and patients regarding the type of estrogen and estrogen/progestin therapy prescribed. More than half of survey participants did not know which estrogen they had or if they had a combination therapy with progestin.
Patients with congenital adrenal hyperplasia and XY disorders of sex development were diagnosed in early childhood, at a mean age of 4 and 7 years, respectively. Turner syndrome was diagnosed at a mean age of 11 years, and Klinefelter syndrome was diagnosed at a mean age of 23 years. Most patients reported satisfaction with the age of HT initiation, apart from patients with Klinefelter syndrome, who began testosterone treatment considerably later (mean age, 28 years). Most of these patients (55.6%) preferred earlier hormone treatment — at a mean age of 15 years. Among patients with XY disorders of sex development, whose mean age for treatment initiation was 24 years, 39.2% would have preferred beginning HT at a mean age of 14 years, according to researchers.
Most patients in the Turner syndrome and congenital adrenal hyperplasia groups reported being satisfied with the information given about their conditions, treatment choices and treatment risks and adverse events during current care (the past 12 months). However, 27% of patients in both the Klinefelter syndrome and XY disorders of sex development groups reported they were not satisfied with information provided about their respective conditions or available treatments.
Across all groups, most participants reported that they were informed about HT in an understandable (72% to 88%) and sensitive way (69% to 83%), according to researchers.
“Although adherence to hormone treatment was generally good, this study shows that [HT] may be improved,” the researchers wrote. “This may be achieved by better individualization of the treatment per se and by providing specific information to patients regarding both long-term and short-term hormonal effects and side effects. Since patients’ opinions concerning some of these aspects of [HT] may develop over time, future studies should continue to include the patients’ views.” – by Regina Schaffer
Disclosures: The authors report no relevant financial disclosures.