PubMed · 252
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S I Volozhin. 1975. [Cryptorchism].. https://pubmed.ncbi.nlm.nih.gov/252/
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PURPOSE: The effect of congenital genitourinary anomalies on fertility and the impact of current therapies are reviewed. MATERIALS AND METHODS: The literature of each of the 2 components was used to define the present status and to make proposals for future management. RESULTS: Infertility may be caused by gonadal failure (intersex states), failure of sperm transport (exstrophy) or both (bilateral undescended testes). In some conditions it is uncertain whether there are any fertility problems despite an identifiable genital problem. In cases of unilateral undescended testis the fertility rate may be unaffected by surgery and be no different from that in the normal population. Techniques of in vitro fertilization, particularly intracytoplasmic sperm injection, have allowed previously untreatable patients to become parents. Successful pregnancies in patients who had the prune belly syndrome and Klinefelter's syndrome have been reported in the last year. CONCLUSIONS: Prospects for fertility with current techniques and those that might be discovered in the next 20 years should strongly influence decisions about the treatment of infants and children.
The role of laparoscopy with regards to the undescended testicle has been hotly debated since the late 1970s and early 1980s when it was realized that the abdominal testicle could be visualized with the laparoscope. Many enthusiastically embraced the laparoscope for diagnosis and localization of the impalpable undescended testicle, whereas others staunchly maintained that laparoscopy was overly invasive and really facilitated little with regards to orchidopexy. Diagnostic laparoscopy, when compared with the other modalities, holds its own well with regards to accuracy and efficacy. In the early 1990s, the role of laparoscopy expanded to include performance of orchidopexy. It would be naive to believe that the debate cooled with the evolution of laparoscopic orchidopexy. Over the years, since introduction of the operation, there have been many institutions that have examined the role of laparoscopic orchidopexy quite critically. In many people's minds, laparoscopic orchidopexy is a clear competitor to open orchidopexy for the impalpable undescended abdominal testicle; in a few people's minds, it has become the gold standard.
PURPOSE: The incidence of intersex states has been reported to be 27% to 100% in patients with hypospadias and cryptorchidism, and routinely determining karyotypes has been recommended. This incidence seems much higher than in our experience. We reviewed the records of patients with hypospadias and/or chordee plus cryptorchidism as well as those referred with ambiguous genitalia to determine whether these findings were associated with a high incidence of chromosomal abnormalities and whether they warrant routine karyotype screening. MATERIALS AND METHODS: We reviewed the records of patients with undescended testis plus hypospadias and/or chordee, and those with ambiguous genitalia who presented between 1986 and 1999. Patients without karyotype determination, and those with iatrogenic cryptorchidism, retractile testes, congenital adrenal hyperplasia or female-appearing external genitalia were excluded from study. Meatus and testis locations at surgery, and associated Müllerian structures and medical conditions were documented. Fisher's exact test was done to determine statistical significance. RESULTS: Of the 113 patients whose records matched study inclusion criteria only 48 had complete anatomical, karyotypic, pathological and radiographic information available. Eight patients (16.7%) had chromosomal abnormalities, including 2 (4.2%) with karyotypic intersex disorder and 6 (12.5%) with autosomal chromosomal abnormalities. There were persistent Müllerian structures in 2 patients (4.2%) with a normal 46 XY karyotype. As described by a staff pediatric urologist, 20 patients (41.7%) had ambiguous genitalia and 8 of the 48 (16.7%) had nonpalpable cryptorchidism. Ambiguous genitalia were associated with chromosomal abnormalities, in 4 of the 20 cases, including 2 karyotypic intersex cases. Only 3 patients with ambiguous genitalia had nonpalpable gonads and 1 with karyotypic intersex disorder had a nonpalpable gonad that involved the testicular elements only. The incidence of autosomal chromosomal abnormalities was not significant (2-tailed Fisher's exact test p <==0.05) and the incidence of karyotypic (autosomal or sex) abnormalities was not significant compared with hypospadias (p = 0.3), genital ambiguity (p = 0.7) or cryptorchidism (p = 0.69), including nonpalpable testis (p = 1). When patients had karyotypic abnormalities, they were more likely to have proximal hypospadias (57.2%), palpable cryptorchidism (62.5%) and ambiguous genitalia (50%). CONCLUSIONS: Most patients who present for the evaluation of hypospadias, chordee and undescended testis have a normal karyotype. Routine karyotype investigation of all patients with hypospadias, chordee and cryptorchidism does not seem warranted. If karyotypic intersex abnormalities are identified, those patients are more likely to have ambiguous genitalia, especially those with perineal hypospadias and cryptorchidism.