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. 2021 Jul;44(7):1483-1490.
doi: 10.1007/s40618-020-01452-w. Epub 2020 Oct 24.

Adverse pathophysiological influence of early testosterone therapy on the testes of boys with higher grade sex chromosome aneuploidies (HGAs): a retrospective, cross-sectional study

M Spaziani  1   2 , C Tarantino  3   4 , C Pozza  3 , A Anzuini  3   4 , F Panimolle  3 , G Papi  3   4 , D Gianfrilli  3 , A Lenzi  3 , A F Radicioni  3   4
Affiliations

Adverse pathophysiological influence of early testosterone therapy on the testes of boys with higher grade sex chromosome aneuploidies (HGAs): a retrospective, cross-sectional study

M Spaziani et al. J Endocrinol Invest. 2021 Jul.

Abstract

Purpose: Higher grade aneuploidies (HGAs) of the male sex chromosomes are a rare genetic group of pathologies caused by nondisjunction meiotic events. The aim of this study was to evaluate the impact of early androgenic therapy on the testicular secretory hormone profile, and the pathophysiological implications.

Patients and methods: In this cross-sectional study, 18 HGA subjects aged 6-8 years were recruited. They were divided into two groups, based on whether or not they had previously undergone testosterone therapy (group 1: 11 untreated subjects; group 2: 7 treated subjects). Serum FSH, LH, testosterone (T), inhibin B (INHB) and anti-Müllerian hormone (AMH) were determined, and auxological parameters were assessed. Five group 1 patients and four group 2 patients were treated with hCG (human chorionic gonadotropin) for inguinal cryptorchidism; their hormone profile and auxological parameters were assessed both pre- and post-hCG treatment.

Results: Group 1 subjects showed significantly higher testicular volume and higher levels of AMH and INHB (p < 0.0001). Subjects who had undergone hCG therapy showed a significantly higher testicular volume, penis length (respectively, p = 0.008 and p = 0.0005 for group 1 and p = 0.04 and p = 0.001 for group 2) and T (p = 0.005 for group 1 and p = 0.004 for group 2).

Conclusions: HGA patients undergoing early testosterone therapy show an earlier and persistent suppression of testicular secretory function. At this age, the testes are still responsive to stimulation with hCG. The selection of patients to be treated must be accompanied by a thorough clinical and hormonal evaluation.

Keywords: 48,XXXY; 48,XXYY; 49,XXXXY; Cryptorchidism; Leydig cells; Sertoli cells.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Gonadotropins, T, AMH and INHB levels against chronological age in group 1 (untreated—white circles) and group 2 (treated—black circles) patients
See this image and copyright information in PMC

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