Čes-slov Pediat 2024, 79(89):S7-S10 | DOI: 10.55095/CSPediatrie2024/051

Cryptorchidism: New insights into etiology and prognosisShort News

Jiřina Zapletalová¹, Kristina Holotová¹, Jan Lebl²

¹ Dětská klinika, Lékařská fakulta, Univerzita Palackého, Fakultní nemocnice Olomouc

² Pediatrická klinika, 2. lékařská fakulta, Univerzita Karlova, Fakultní nemocnice v Motole, Praha

Undescended testicles are among the most common congenital abnormalities of the urogenital tract in boys, with a prevalence in full-term newborns between 1.5% and 9.0%, in premature boys around 30%. Of these, approximately 90% have unilateral and 10% bilateral testicular retention. Bilateral cryptorchidism deserves special attention. Majority of the standard procedures for testicular retention were proposed by societies of pediatric urologists, with just marginal or absent participation of pediatric endocrinologists. Anyway, bilateral testicular retention is recently becoming a key endocrine symptom pointing towards a serious complex health problem that has frequently a genetic context and requires a qualified work-up preferably within the first six months of life. This period of physiological mini-puberty opens not only a diagnostic, but also a potentially therapeutic window – for administration of gonadotropins. Evidence for this was recently provided by a retrospective analysis of endocrine and genetic findings in 130 boys who underwent bilateral orchidopexy over a 13-year period at a tertiary pediatric center. This study demonstrated hormonal dysfunction in 38% of patients. Genetic testing (chromosomal microarray and next-generation sequencing) was performed in 70 patients: 54% of them had pathogenic or likely pathogenic genetic variants.  These results confirm that hypogonadism and genetic abnormalities in hypothalamic-pituitary-gonadal axis are common in boys with bilateral cryptorchidism. In them, an endocrine and genetic testing to determine adequate management should become a routine clinical practice.

Keywords: bilateral cryptorchidism, hypothalamic-pituitary-gonadal axis, testosterone, AMH, hypogonadotropic hypogonadism, genetic examination, minipuberty

Accepted: September 25, 2024; Published: December 1, 2024  Show citation