Gonadal Function in Boys with Bilateral Undescended Testes

Abstract

Background Bilateral undescended testes (BUDT) may be a marker of an underlying condition that affects sex development or maturation. Aims To describe the extent of gonadal dysfunction in cases of BUDT who had systematic endocrine and genetic evaluation at a single tertiary paediatric centre. Methods A retrospective review was conducted of all boys with BUDT who had endocrine evaluation between 2008-2021 at the Royal Hospital for Children, Glasgow. Continuous variables were analysed using Mann-Whitney U and non-continuous variables using Fisher exact, via Graphpad Prism v 8.0. Multivariable logistic regression was used to identify any associations between groups. A p<0.05 was considered statistically significant. Results A total of 243 bilateral orchidopexies were performed at RHCG between 2008-2021. Of these 130 (53%) boys were seen by the endocrine team. Median (range) age at first orchidopexy of 1 year (0.2, 18.0) with 16 (12%) requiring re-do orchidopexy. The median External Masculinization Score (EMS) of the group was 10 (2, 11) with 33 (25%) having additional genital features. Of the 130 boys, 71 (55%) had extra-genital anomalies. Of the 70 who were tested, a genetic abnormality was detected in 38 (54%), most commonly a chromosomal variant in 16 (40%). Of the 100 who were tested, endocrine dysfunction was identified in 38 (38%). Conclusions Genetic findings and evidence of gonadal dysfunction are common in boys who are investigated secondary to presentation with BUDT. Endocrine and genetic evaluation should be part of routine clinical management of all cases of BUDT.

Anti-Müllerian hormone, testicular descent and cryptorchidism

“…However, AMH levels are not systematically decreased in all boys with cryptorchidism, and a few studies could not detect a significant difference as compared to control boys (102,103). In boys with cryptorchidism, low serum AMH is suggestive of hypogonadism, reflecting a decreased Sertoli cell mass and, therefore, a reduced testicular size and/or an impaired Sertoli cell function (6,(104)(105)(106)(107)(108)(109)(110)(111)(112). Low AMH levels have also been suggested to predict a decreased number of germ cells in the testes (113,114)…”

“…Serum testosterone is below the male range in both disorders of gonadal development and of androgen biosynthesis. Serum AMH determination can be useful to distinguish between them (Figure 6), since it is below the male range in patients with testicular dysgenesis but within the normal range or above in patients with defects of androgen synthesis (112,(121)(122)(123)(124)(125)(126). The coexistence of testosterone and AMH levels in the male range is suggestive of partial androgen insensitivity (121,124,126).…”