Abstract
Background:
We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic.
Methods:
Medical records of children with DSD and AG seen at one large academic center since 2007 were reviewed. Data analyzed included diagnosis, sex of rearing, age, initial or follow up visit, number of individuals present and sex of the pediatric endocrinologist. Repeated measures analysis was performed to evaluate associations between GEs and patient/physician factors.
Results:
Eighty-two children with DSD and AG who had a total of 632 visits were identified. Sex of rearing was female in 78% and the most common diagnosis was congenital adrenal hyperplasia (CAH) (68%). GEs were performed in 35.6% of visits. GEs were more likely in patients with male sex of rearing (odds ratio [OR] 17.81, p=0.006), during initial vs. follow-up visits (OR 5.99, p=0.012), and when the examining endocrinologist was female (OR 3.71, p=0.014). As patients aged, GEs were less likely (OR 0.76, p<0.0001).
Conclusions:
GEs were performed in approximately one-third of clinic visits in children with DSD and AG. Male sex of rearing, initial visits and female pediatric endocrinologist were associated with more frequent GEs.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Jürgensen M, Lux A, Wien SB, Kleinemeier E, Hiort O, et al. Health-related quality of life in children with disorders of sex development (DSD). Eur J Pediatr 2014;173:893–903.10.1007/s00431-014-2264-zSearch in Google Scholar PubMed
2. Suorsa KI, Mullins AJ, Tackett AP, Scott Reyes KJ, Austin P, et al. Characterizing early psychosocial functioning of parents of children with moderate to severe genital ambiguity due to disorders of sex development. J Urol 2015;194:1737–42.10.1016/j.juro.2015.06.104Search in Google Scholar PubMed PubMed Central
3. Baskin LS. Disorders of sex development. In: McAninch JW, Lue TF, editors. Smith and Tanagho’s general urology, 18e. New York: McGraw-Hill, 2013:654–86.Search in Google Scholar
4. Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. Pediatrics 2006;118:e488–500.10.1542/peds.2006-0738Search in Google Scholar PubMed
5. Houk CP, Hughes IA, Ahmed SF, Lee PA. Summary of consensus statement on intersex disorders and their management. Pediatrics 2006;118:753–7.10.1542/peds.2006-0737Search in Google Scholar PubMed
6. Clinical Guidelines for the Management of Disorders of Sex Development in Childhood. Consortium on the Management of Disorders of Sex Development. Intersex Society of North America 2006;1:31–3.Search in Google Scholar
7. Thyen U, Lux A, Jürgensen M, Hiort O, Köhler B. Utilization of health care services and satisfaction with care in adults affected by disorders of sex development (DSD). J Gen Int Med 2014;29:752–9.10.1007/s11606-014-2917-7Search in Google Scholar PubMed PubMed Central
8. Pasterski V, Mastroyannopoulou K, Wright D, Zucker KJ, Hughes IA. Predictors of posttraumatic stress in parents of children diagnosed with a disorder of sex development. Arch Sex Behav 2014;43:369–75.10.1007/s10508-013-0196-8Search in Google Scholar PubMed
9. Wolfe-Christensen C, Fedele DA, Kirk K, Mullins LL, Lakshmanan Y, et al. Caregivers of children with a disorder of sex development: associations between parenting capacities and psychological distress. J Pediatr Urol 2014;10:538–43.10.1016/j.jpurol.2013.11.016Search in Google Scholar PubMed
10. Wolfe-Christensen C, Fedele DA, Kirk K, Phillips TM, Mazur T, et al. Degree of external genital malformation at birth in children with a disorder of sex development and subsequent caregiver distress. J Urol 2012;188(4 Suppl):1596–600.10.1016/j.juro.2012.02.040Search in Google Scholar PubMed
11. Tishelman AC, Shumer DE, Nahata L. Disorders of sex development: pediatric psychology and the genital exam. J Pediatr Psychol 2017;42:530–43.10.1093/jpepsy/jsw015Search in Google Scholar PubMed
12. Screening for Testicular Cancer. US preventive services task force reaffirmation recommendation statement. Ann Intern Med 2011;154:483–6.10.7326/0003-4819-154-7-201104050-00006Search in Google Scholar PubMed
©2017 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Mini Review
- Marine-Lenhart syndrome in two adolescents, including one with thyroid cancer: a case series and review of the literature
- Original Articles
- The role of enterovirus infections in type 1 diabetes in Tunisia
- Serum progranulin levels in relation to insulin resistance in childhood obesity
- Relation between circulating oxidized-LDL and metabolic syndrome in children with obesity: the role of hypertriglyceridemic waist phenotype
- Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand
- Thyroid evaluation of children and adolescents with Williams syndrome in Zhejiang Province
- The use of a radiolucent template to improve bone age X-ray quality (BASIC study)
- How often are clinicians performing genital exams in children with disorders of sex development?
- Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis
- Higher phthalate concentrations are associated with precocious puberty in normal weight Thai girls
- Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
- Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
- Case Reports
- Diabetic ketoacidosis, hyperuricemia and encephalopathy intractable to regular-dose insulin
- A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
- High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum
- A newborn with combined pituitary hormone deficiency developing shock and sludge
- Acknowledgment
Articles in the same Issue
- Frontmatter
- Mini Review
- Marine-Lenhart syndrome in two adolescents, including one with thyroid cancer: a case series and review of the literature
- Original Articles
- The role of enterovirus infections in type 1 diabetes in Tunisia
- Serum progranulin levels in relation to insulin resistance in childhood obesity
- Relation between circulating oxidized-LDL and metabolic syndrome in children with obesity: the role of hypertriglyceridemic waist phenotype
- Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand
- Thyroid evaluation of children and adolescents with Williams syndrome in Zhejiang Province
- The use of a radiolucent template to improve bone age X-ray quality (BASIC study)
- How often are clinicians performing genital exams in children with disorders of sex development?
- Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis
- Higher phthalate concentrations are associated with precocious puberty in normal weight Thai girls
- Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
- Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
- Case Reports
- Diabetic ketoacidosis, hyperuricemia and encephalopathy intractable to regular-dose insulin
- A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
- High aldosterone and cortisol levels in salt wasting congenital adrenal hyperplasia: a clinical conundrum
- A newborn with combined pituitary hormone deficiency developing shock and sludge
- Acknowledgment