This article is more than 5 years old. Information may no longer be current.
Patients with developmental sexual disorder often have other conditions
Click Here to Manage Email Alerts
More than 25% of patients with developmental sexual disorder have comorbid conditions, according to data from an international registry.
The I-DSD Registry identified patients with developmental sexual disorder (DSD) reported by clinicians in various medical and scientific societies in a wide range of specialties, including pediatric and adult endocrinology, clinical genetics and biochemistry. As of September 2012, when the study was conducted, data for 1,050 patients had been submitted by registered physicians from 20 centers in 14 countries. Of these, 649 patients were deemed accessible based on an adequate level of consent.
Researchers extracted patient data from the registry regarding karyotype, sex of rearing, clinical center, genetic investigations and associated conditions.
Of the 649 accessible patients, 168 (26%) were found to have associated anomalies. Of these, 103 (61%) had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions and 14 (8%) had four or more conditions, with a maximum of eight conditions.
Associated anomalies were documented in six of the patients with 45,X karyotype (75%), 19 with 45,X/46,XY (45%), 112 with 46,XY DSD (24%), 27 with 46,XX DSD (22%), and four in the atypical karyotype category (22%).
Of the 112 patients with 46,XY DSD, the most prevalent conditions were small for gestational age in 26 patients (23%), cardiac disorders in 22 (20%) and central nervous system disorders in 22 patients (20%). In the 27 cases of 46,XX DSD, renal and skeletal anomalies were most prevalent, affecting 12 patients (44%) and eight patients (30%), respectively.
Of 170 patients in which androgen insensitivity syndrome (AIS) was hypothesized, 19 (11%) had reported conditions, and nine of these had confirmed androgen receptor mutations. An unanticipated relationship was noted between renal abnormalities in patients with AIS and confirmed androgen receptor mutation.
“In many cases of DSD, the etiology remains obscure, and the current findings may lead to new research targets as well as improved care of those affected by these disorders,” the study researchers wrote.
Disclosure: The researchers report no relevant financial disclosures.
Click Here to Manage Email Alerts