The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.

Aarskog-Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation. The results obtained show that clinical findings of the craniofacial, orthopaedic, and genitourinary tract correspond to the highest scores of prevalence. The authors reclassified the primary, secondary, and additional criteria based on their prevalence. Furthermore, it was possible to observe, in accordance with previous reports, that the reported phenotypes do not present a direct relation to the underlying genotypes.

Comparative effectiveness of imaging modalities for preoperative assessment of anorectal malformation in the pediatric population.

OBJECTIVE: The aim of this study was to compare the accuracy of MRI, colostography/fistulography, and X-ray imaging modalities for preoperative diagnosis of anorectal malformations (ARMs) in pediatric patients. METHODS: This retrospective analysis included a total of 84 pediatric patients with ARMs. Preoperative imaging findings were assessed by 2 radiologists and compared to surgical findings. RESULTS: MRI identified anomalies of the spine in 25 of 84 patients (29.8%), anomalies of the genital system in 7 of 84 patients (8.3%), anomalies of the urinary system in 22 of 84 patients (26.2%), and underdeveloped sphincter muscle complex in 34 of 84 patients (40.5%). In the 44 subjects receiving both MRI and X-ray, MRI was more sensitive in detecting anomalies of spine (18/44 vs. 8/44; P = 0.002), and both correctly identified the distal end of the rectum in 77.3% (34/44) of the cases. In the 24 subjects receiving both MRI and colostography/fistulography, MRI was more accurate in identifying Pena's classification (22/24 vs. 15/24; P = 0.039). Distal end of the rectum was correctly identified in 75.0% (18/24) and 58.3% (14/24) of the cases (P = 0.125). CONCLUSIONS: MRI could clearly reveal fistula anatomy and associated anomalies of ARMs and should be routinely used for preoperative evaluation of ARMs. TYPE OF STUDY: Study of diagnostic test. LEVEL OF EVIDENCE: Level II.

Physical deformities relevant to male infertility.

Infertile men are frequently affected by physical abnormalities that might be detected on routine general and genital examinations. These structural abnormalities might damage or block the testes, epididymis, seminal ducts or other reproductive structures and can ultimately decrease fertility. Physical deformities are variable in their pathological impact on male reproductive function; some render men totally sterile, such as bilateral absence of the vasa deferentia, while others cause only mild alterations in semen parameters. Concise and up-to-date information regarding the contemporary epidemiological characteristics, clinical features and pathophysiological impacts of these common abnormalities on male fertility is crucial for the practicing urologist to identify the best treatment option.

Nonfluoroscopic pressure colostography in the evaluation of genitourinary fistula of anorectal malformations: experience in a resource-poor environment.

BACKGROUND: Radiological imaging is paramount for defining the genitourinary fistulae commonly associated with anorectal malformations prior to definitive surgery. The imaging options are resource-limited in many parts of the world. Nonfluoroscopic pressure colostography after colostomy is a cheap method for the evaluation of anorectal malformations. OBJECTIVE: To describe our experience with nonfluoroscopic pressure colostography in the evaluation of anorectal malformations in boys. MATERIALS AND METHODS: The study included 12 boys with anorectal malformation who had colostomy and nonfluoroscopic pressure-augmented colostography with water-soluble contrast medium between January 2006 and December 2007. RESULTS: Patient ages ranged from 2 days to 1 year. The types of genitourinary fistula were rectovesical (7.7%) and rectourethral (92.3%). Oblique radiographs were of diagnostic value in all patients. The types of anorectal malformations were high, intermediate and low in 75%, 8.3% and 16.7%, respectively. Short-segment urethral constriction was a common feature of rectourethral fistula (75%, n=9). CONCLUSION: Our experience has shown that genitourinary fistulae associated with anorectal malformations can be demonstrated reliably by nonfluoroscopic pressure colostography with two oblique radiographs, providing an option in resource-poor settings where fluoroscopic equipment is scarce.

Assessment of the male reproductive system.

Many diseases and medications can affect the urinary system and its function. Assessment of the male genitalia is accomplished with inspection and palpation. It is important to chart what is seen, what is felt, and what the patient reports.

Neonatal exposure to potent and environmental oestrogens and abnormalities of the male reproductive system in the rat: evidence for importance of the androgen-oestrogen balance and assessment of the relevance to man.

The effects on reproductive tract development in male rats, of neonatal exposure to potent (reference) oestrogens, diethylstilboestrol (DES) and ethinyl oestradiol (EE), with those of two environmental oestrogens, octylphenol and hisphenol A were systematically compared. Other treatments, such as administration of a gonadotrophin-releasing hormone antagonist (GnRHa) or the anti-oestrogen tamoxifen or the anti-androgen flutamide, were used to aid interpretation of the pathways involved. All treatments were administered in the neonatal period before onset of puberty. The cellular sites of expression of androgen receptors (AR) and of oestrogen receptor-alpha (ERalpha) and ERbeta were also established throughout development of the reproductive system. The main findings were as follows: (i) all cell types that express AR also express one or both ERs at all stages of development; (ii) Sertoli cell expression of ERbeta occurs considerably earlier in development than does expression of AR; (iii) most germ cells, including fetal gonocytes, express ERbeta but not AR; (iv) treatment with high, but not low, doses of potent oestrogens such as DES and EE, induces widespread structural and cellular abnormalities of the testis and reproductive tract before puberty; (v) the latter changes are associated with loss of immunoexpression of AR in all affected tissues and a reduction in Leydig cell volume per testis; (vi) none of the effects in (iv) and (v) can be duplicated by treating with high-dose octylphenol or bisphenol A; (vi) none of the reproductive tract changes in (iv) and (v) can be induced by simply suppressing androgen production (GnRHa treatment) or action (flutamide treatment); and (vii) the adverse changes induced by high-dose DES (iv and v) can be largely prevented by co-administration of testosterone. Thus, it is suggested that many of the adverse changes to the testis and reproductive tract induced by exposure to oestrogens result from a combination of high oestrogen and low androgen action. High oestrogen action or low androgen action on their own are unable to induce the same changes.

The role of a clinical score in the assessment of ambiguous genitalia.

OBJECTIVE: To improve the initial assessment of ambiguous genitalia in infants. SUBJECTS AND METHODS: Using a specially devised scoring system, the external genitalia (external masculinization score, EMS, range 0-12) and internal reproductive structures (internal masculinization score, IMS, range 0-10) were assessed in 426 male newborns and 291 cases of ambiguous genitalia. RESULTS: In normal male newborns, the median (10th centile) EMS was 11 (10). In the affected infants, the sex of rearing was male in 202 and female in 89 cases, respectively. The median (10-90th centile) EMS in those cases reared male, at 3.5 (2-8), was significantly higher than in cases reared as females, at 2 (1-6) (P < 0.001). The median IMS in cases reared as males and females was the same, at 10, but the scatter of values was higher for males (10-90th centile, 4-10) than for females (0-10) (P = 0.01). Infants reared as females were more likely to have a micropenis, a uterus and/or a urogenital sinus, but there were 12 cases where the sex of rearing was male despite the presence of a uterus; five infants without micropenis were reared as female and 23 with a urogenital sinus were reared as male. CONCLUSION: The masculinization score provides a standardized format to summarize clinical features in newborn infants with ambiguous genitalia. Gender assignment does not solely depend on the appearance of the external genitalia and the nature of internal sexual organs.

Assessment and support of sexual functioning in 458 men seeking genitourinary reconstructive surgery.

Horton and associates focused on an aspect of genital reconstructive surgery: restored or improved sexual functioning. The availability a physician skilled in the application of modern sexual counseling has been demonstrated in a group of 458 men to assist in maximizing the benefit of such surgery on patients' sexual and coital success. The sexual therapist was a valued member of the team approach to patient care. The necessity of psychiatric assessment for some was apparent, as it would be in any population of patients seeking plastic or corrective surgery. The association of the sexual therapist with various mental health professionals was important. The recognition of mental and emotional difficulties was primary, but the further skills the sexual therapist brought by application of sexual therapy techniques was also important. Men disadvantaged sexually by genital abnormality gained from a sensitive and educational approach, one that included their partners in the context of open communication and offered specific suggestions for their own specific needs and situations. Sexual therapy techniques and skills instruction added a vital dimension to the complete care of these men seeking correction of genital abnormalities. The techniques and approaches themselves were fairly straightforward and simple, as well as fairly standardized. Described by Masters and Johnson, Jones and others, they were clearly effective in enhancing comfort with sexuality and less pressured approaches to sexual behavior, and ultimately in enhancing sexual functioning itself.