Distinguishing between hidden testes and anorchia: the role of endocrine evaluation in infancy and childhood

in European Journal of Endocrinology
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  • 1 Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
  • 2 International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

Correspondence should be addressed to A Juul EmailAnders.Juul@regionh.dk
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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.

Supplementary Materials

    • Supplementary Table 1: Results from exploratory laparoscopy on the 12 anorchid patients that underwent surgery (patient numbers correspond to patient numbers in Table 2b)

 

     European Society of Endocrinology

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