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Revised guideline stresses family support for children with disorders of sexual development
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Clinicians evaluating an infant or adolescent with a suspected disorder of sexual development should focus on providing psychological support to the child and parents, ruling out possible related medical problems and discussing the risks and benefits of any medical or surgical treatment with the family, according to a revised guideline published in Clinical Endocrinology.
The revised guideline, an update of the recommendations first published in 2011, also advises that an experienced, multidisciplinary team be accessible to families through regional centers, including specialists in endocrinology, surgery or urology, clinical psychology, radiology, nursing and neonatology, with family discussions led by a single professional. The clinical team should also have links to a wider multidisciplinary team, including specialists from adult endocrinology, plastic surgery, gynecology, clinical genetics, clinical biochemistry, adult clinical psychology, and social work and, if possible, a clinical ethics forum.
S. Faisal Ahmed
“The Society for Endocrinology guideline was initially developed in 2011 because having a child with a suspected [disorder of sexual development] is a very rare situation requiring multidisciplinary support,” lead guideline author S. Faisal Ahmed, MD, of the School of Medicine of the University of Glasgow, said in a press release. “We have now revised it because [disorder of sexual development] is a rapidly moving field, and medical professionals need to be equipped with the latest information to evaluate the child as quickly as possible.”
Disorders of sexual development encompass a wide range of conditions and usually present in either newborns or adolescents. Affected newborns usually present with atypical genitalia, whereas adolescents may present with atypical sexual development during the pubertal years.
“These clinical situations can often be difficult to manage, particularly in those cases where the sex of rearing is uncertain,” the researchers wrote. “Developing a logical and pragmatic plan for investigations while establishing a dialogue and building rapport with the affected child and the parents is central to the initial approach and ongoing management.”
Atypical genitalia may occur in 1 in 300 births, according to study background, but truly ambiguous genitalia — in which the sex assignment is not clear at birth — occurs in about 1 in 5,000 births. The guideline recommends psychological support for parents, as well as referral to peer support groups. Adolescents with a newly diagnosed disorder of sex development requiring medical or surgical attention should be routinely offered clinical psychology in addition to any support offered to their parents, the researchers wrote.
The revised guideline also offers recommendations for which newborns and adolescents should be investigated for disorders of sexual development and what steps should be taken, and outlines the role of the clinical geneticist in establishing a specific molecular diagnosis in some cases.
“A thorough, systematic approach to evaluating [disorders of sexual development] that takes the entire family into account is important, so that the parents and health care staff are in an optimal position to make the right decisions for long-term care,” Ahmed said. – by Regina Schaffer
Disclosure: The researchers report no relevant financial disclosures.
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