Abstract | OBJECTIVE: Classification of severe hypospadias employing a broad array of diagnostic tools. Standardization of a diagnostic approach to children with hypospadias. Indentification of patients at risk of having malignancies and endocrine problems. DESIGN: Retrospective analysis of patients in a single-center study. SUBJECTS: Thirty-three patients with severe (scrotal or penoscrotal) hypospadias, aged 1 to 18 years. METHODS: RESULTS: In 12 patients the cause was clarified. Diagnoses included Drash syndrome with Wilms tumor in infancy (3 patients), partial androgen insensitivity resulting from androgen receptor mutations (2), true hermaphroditism (2), chromosomal aberration (1), deficiency of antimüllerian hormone (1), gonadal dysgenesis (1), partial 5 alpha-reductase deficiency caused by a novel point mutation (1), and XX-male syndrome (1). Twelve patients had associated findings such as cardiac malformations (3 patients), rectal atresia (1), dilation of urinary tract (2), cystinuria (1), and others. CONCLUSIONS: Patients with severe hypospadias should be submitted to a standardized set of diagnostic procedures in infancy. A stepwise diagnostic study avoids unnecessary, invasive, and expensive testing. A high proportion of classified causes can be expected. Patients at risk of having malignancies or hormonal disorders must remain under close surveillance.
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Authors | N Albers, C Ulrichs, S Glüer, O Hiort, G H Sinnecker, H Mildenberger, J Brodehl |
Journal | The Journal of pediatrics
(J Pediatr)
Vol. 131
Issue 3
Pg. 386-92
(Sep 1997)
ISSN: 0022-3476 [Print] United States |
PMID | 9329414
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Adolescent
- Algorithms
- Biopsy
- Child
- Child, Preschool
- DNA Mutational Analysis
- Decision Trees
- Diagnosis, Differential
- Disorders of Sex Development
(diagnosis, genetics)
- Female
- Humans
- Hypospadias
(classification, diagnosis, genetics, therapy)
- Infant
- Infant, Newborn
- Male
- Prognosis
- Retrospective Studies
- Severity of Illness Index
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