Hormone Research in Paediatrics
Nebesio T.D. ·
Kim M.S. · Szymanski K.M. · Kokorowski P.J. ·
Geffner M.E. ·
Eugster E.A. · on behalf of the Life with Congenital Adrenal Hyperplasia Study Group
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Article / Publication Details
Abstract
Background: Testicular adrenal rest tumors (TARTs) increase the risk of infertility in males with classic congenital adrenal hyperplasia (CAH). There is no consensus regarding at what age screening testicular ultrasounds should begin and how often they should be repeated. Furthermore, it is unknown whether patients and parents are aware of the significance of TARTs.
Objective: To investigate awareness, concern, and screening rates for TARTs in males with classic CAH.
Methods: Males with CAH and parents completed an online questionnaire from 2019-2020. Responses to questions about TARTs were analyzed. Fisher’s exact test was used to determine statistical significance.
Results: Of 123 responders, 14 were males with CAH (range 16-54 years) and 109 were parents of males with CAH (son’s age range infancy to 37 years). Of all responders, 74% were concerned about the possibility of TARTs, 48% had discussions about TARTs with their endocrinologist, and 42% were aware of possible infertility in males with CAH. There was no difference between responses provided by affected males and parents for these topics (p>0.08). Among male responders with CAH, 93% had at least one testicular ultrasound, and 77% had undergone more than one. Among parent responders, 30% of their sons had at least one testicular ultrasound, and 61% had more than one. The frequency, total number, and age when the first testicular ultrasound was obtained was inconsistent in both groups. Fifty percent of male responders with CAH and 11% of sons were referred to a urologist for evaluation.
Conclusions: Although most responders were concerned about TARTs, less than half recalled discussing this issue with their endocrinologist, and less than half were aware of the possibility of infertility. Although TARTs are most often treated medically, several responders were referred to a urologist. Standardized patient education and consensus guidelines are needed for the surveillance and management of TARTs in males with classic CAH.
S. Karger AG, Basel
Article / Publication Details
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