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Rigshospitalet - a part of Copenhagen University Hospital
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Distinguishing between hidden testes and anorchia: The role of endocrine evaluation in infancy and childhood

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Objective: Non-palpable testes remain a diagnostic challenge, often involving exploratory laparoscopy. We evaluated the diagnostic value of a wide range of reproductive hormones in order to distinguish between bilateral cryptorchidism and bilateral anorchia. Design: In this retrospective study, we identified and included 36 boys with non-palpable testes (20 with cryptorchidism, 3 with congenital hypogonadotropic hypogonadism (CHH), and 13 with anorchia) at first examination during childhood. Methods: Information on karyotype, phenotype, surgical results from laparoscopy, and biochemistry was retrieved from patient files. We compared serum concentrations of AMH, inhibin B, FSH, LH, testosterone, estradiol, and hCG stimulation testing in cryptorchid and anorchid boys to serum concentrations in a large, age-matched control group. Receiver-operating characteristic curves were used to determine the cut-off values of each reproductive hormone as a predictor of the presence of functional testicular tissue. Results: Concentrations of AMH in 0-1 year olds: ≥155 pmol/L and >1-15 year olds: ≥19 pmol/L, inhibin B (≥22 pg/mL and ≥4 pg/mL), FSH (≤28.9 IU/L and ≤20.3 IU/L) and hCG-induced testosterone (>1-15 year olds: ≥2 nmol/L) were significantly sensitive and specific markers in predicting the presence of functional testicular tissue in boys with non-palpable testes. In infancy, anorchid infants had significantly elevated gonadotropin levels, while CHH had low levels. Conclusion: Our findings suggest that laparoscopy may not be necessary in all boys with non-palpable testes if reproductive hormones unequivocally confirm the presence of functional testicular tissue. However, proving the absence may still be a diagnostic challenge.

Original languageEnglish
JournalEuropean Journal of Endocrinology
Volume183
Issue number1
Pages (from-to)107-117
Number of pages11
ISSN0804-4643
DOIs
Publication statusPublished - Jul 2020

    Research areas

  • Adolescent, Anti-Mullerian Hormone/blood, Biomarkers/blood, Child, Child, Preschool, Chorionic Gonadotropin/blood, Cryptorchidism/diagnosis, Diagnosis, Differential, Estradiol/blood, Follicle Stimulating Hormone/blood, Gonadal Dysgenesis, 46,XY/diagnosis, Gonadal Hormones/blood, Humans, Hypogonadism/congenital, Infant, Infant, Newborn, Inhibins/blood, Luteinizing Hormone/blood, Male, ROC Curve, Retrospective Studies, Testis/abnormalities, Testosterone/blood

ID: 59885441