Internal Genitalia Research Articles

Epirubicin plus cyclophosphamide vs. weekly paclitaxel as primary systemic therapy in patients with stage II and III breast cancer: randomized phase II study

Standard cystectomy for bladder cancer in males and females includes removal of organs that are vital to normal sexual function. We report the initial results of modified cystectomy in males and females meant to preserve all sexual function, called sexuality preserving cystectomy and neobladder.Sexuality preserving cystectomy and neobladder consists of pelvic lymph node dissection followed by cystectomy alone with preservation of the vasa deferentia, prostate and seminal vesicles in males, and all internal genitalia in females. An ileal neobladder is anastomosed to the margins of the prostate in males and urethra in females. Indications for this type of surgery are bladder cancer stages T1–T3 with absent tumor growth in the bladder neck in males and females, absent tumor in the prostatic urethra in males and absent invasive tumor in the trigone in females. Further requirements are patient motivation for the preservation of sexual function, no prostate cancer and no cervical/uterine abnormalities. Preoperative evaluation in males involves prostate specific antigen measurement and transrectal ultrasound with sextant prostate biopsies, while females undergo gynecological examination with a cervical smear and transvaginal ultrasound. Voiding and sexual function are assessed by a structured interview with preoperative urodynamics. Erectile function is evaluated by RigiScan (UroHealth Systems, Inc., Laguna Niguel, California) nocturnal penile erection measurement. A short course of 20 Gy. external radiation therapy to the bladder is given shortly before surgery. No patient has been lost to followup, which involves repeat RigiScan examination and regular endoscopy. All patients were entered in a prospective clinical trial approved by the medical ethics committee.From 1995 to 1998, 10 males and 3 females 38 to 71 years old (mean age 55) were enrolled in this protocol. Bladder cancer was stage T carcinoma in situ N0M0 in 1 case, Ta multiple grade 3 N0M0 in 1, T1 multiple grade 3 N0M0 in 4, T2 grade 3 N0M0 in 5, T2 grade 3 N1M0 in 1 and T3 grade 3 N1M0 in 1. Mean followup was 3.5 years (range 3 to 6). Two patients died of widespread metastasis without local recurrence. In 1 case prostate cancer developed 5 years after sexuality preserving cystectomy and neobladder, which was treated with external radiation therapy. Erection was normal in 7 men with antegrade ejaculation in 5 and vaginal lubrication was reported to be normal in all women. Daytime continence was achieved in 9 of the 10 males and 2 of the 3 females, while nighttime continence was achieved in 7 and 2, respectively. One woman and 3 men perform intermittent catheterization because of post-void residual urine after voiding. Postoperatively a vaginal fistula and ureteral stenosis developed in 1 case each.Sexuality preserving cystectomy and neobladder achieves maximal tissue conservation, resulting in preserved normal sexual function and satisfactory urinary tract reconstruction. Using strict criteria oncological results have not been jeopardized to date.

Síndrome de feminización testicular incompleta

To report one case of partial androgen insensitivity syndrome. The patient underwent history and physical examination, blood tests, hormone determinations, androgen stimulation and suppression tests, nuclear chromatin and karyotype, imaging and endoscopic tests, exploratory laparoscopy with gonadal biopsy and bilateral orchyectomy, and subsequent genital plasty. We report the case of a phenotypically female patient with genital ambiguity, with a dorsally curved peniform clitoris and a urogenital sinus with partial labia fusion. Blood tests, hormonal determinations, and androgen stimulation-suppression tests were all normal. Both ultrasound and laparoscopy showed absence of internal genitalia. The biopsy showed testicles with relative Leydig cell hyperplasia and slight basal membrane thickening. The cosmetic and functional results were completely satisfactory with normal sexual intercourse. The reinforcement of the generic role after genital plasty provided satisfactory identification and sexual performance.

Multicystic dysplastic kidney with ipsilateral abnormalities of genitourinary tract: Experience in children

Objectives To investigate the incidence, nature, and management of associated ipsilateral genitourinary malformations in children with multicystic dysplastic kidney (MCDK). Methods In this retrospective study, we analyzed the medical records and imaging studies of 93 patients with MCDK. Patients underwent ultrasonography, voiding cystourethrography, intravenous urography, and radionuclide renal imaging studies during their first month of age. Results A diagnosis of MCDK associated with malformation of the ipsilateral internal genitalia was confirmed in 11 patients after birth investigations of prenatal MCDK. Three were diagnosed at 1, 12, and 14 years of age because of epididymitis, pelvic pain associated with amenorrhea, and accidentally during lumbar pain assessment, respectively. The male/female sex ratio was 10:4. The left side was involved in 9 patients. We had 3 cases of Gartner duct persistence, 6 of cystic retrovesical and laterovesical masses with vanishing MCDK, 4 of cystic retrovesical or laterovesical masses with compressive MCDK, and 1 of a blind-ending hemivagina. Nine patients were periodically observed, and four underwent nephroureterectomy. All patients underwent 6-month follow-up examinations with ultrasonography (mean follow-up 6.54 years, range 36 months to 14 years). Conclusions Of the 93 patients with MCDK, 14 (15%) had malformations of the ipsilateral internal genitalia. Persistence of seminal cysts in boys and Gartner ducts were encountered even if the MCDK had involuted. These results suggest that follow-up of patients with MCDK should be performed until the end of puberty to detect genitourinary malformations.

Disgerminoma y síndrome de Swyer

Swyer syndrome is a pure gonadal dysgenesis with a 46XY karyotype, normal female phenotype, and complete lack of functioning gonadal tissue, which is represented by bilateral, nonfunctioning, rudimentary streak gonads composed of fibrous tissue, with normal female internal genitalia. They present most often with primary amenorrhea. To date, 20% of these are explained by a mutation or a deletion in SRY. In 80%, SRY is apparently normal. The risk of gonadal neoplasia is high, dictating early prophylactic removal of these dysgenetic gonads. Laparoscopic surgery is recommended. Gonadoblastoma and dysgerminoma are the most frequently reported malignancies.

Genital variation in a dimorphic moth Selenia tetralunaria (Lepidoptera, Geometridae)

Insect genitals vary greatly among species and provide a key tool for species-level taxonomy. Insects differing in the genitalia are often treated as discrete, reproductively isolated species. This principle dates back to the lock-and-key hypothesis, which states that genitalia vary between species in order to provide a mechanical reproductive isolation system. Thus, the hypothesis assumes low within-species variability in genital traits. However, recent studies suggest that sexual selection may be responsible for the evolution of insect genitalia. We studied allometry and genital size and shape variation in a dimorphic moth Selenia tetralunaria. We found that the genitalia showed negative allometry in relation to body size as reported in many insect and spider species. This allometry was stronger in internal genital structures than it was in external genitalia. We also found that there was more variation in internal compared with external genitalia. Finally, we found that the shape of genital structures differed between morphs in all three examined areas. S. tetralunaria is among the first reported cases of genitally dimorphic insect species. Considerable variation in internal genitalia and especially the presence of genital shape differences between morphs were not consistent with the predictions of the lock-and-key hypothesis. © 2006 The Linnean Society of London, Biological Journal of the Linnean Society, 2006, 87, 297–307.

Asymmetric female genitalia and other remarkable morphology in a new genus of cobweb spiders (Theridiidae, Araneae) from Madagascar

Symmetry is such a conspicuous feature of life that asymmetries draw our immediate attention. While not uncommon in bilateral organisms in general, asymmetry in spiders is rare. Here I report the first case of antisymmetry in external female genitalia in spiders, in the new genus Asygyna (Theridiidae: Araneae) from Madagascar. In the nearly 39 000 species of spiders described to date, the external structure of the female genitalia is symmetric. In entelegyne spiders paired external copulatory openings each lead to an internal copulatory duct, whose roughly symmetrical trajectories terminate in paired receptacles, the spermathecae. In Asygyna, here exemplified by two new species, A. huberi and A. coddingtoni, laterality is evident in the internal and external female genitalia. A single copulatory opening leads (either to the left or right depending on the individual) to a single copulatory duct with a distinctly asymmetric trajectory. The duct splits terminally shortly before entering the two spermathecae. The males are symmetric, but possibly only one palp can be used in copulation with each female. If adaptive, the selective forces behind this asymmetry are perplexing, as male access to females seems reduced. However, if males are plentiful, asymmetry may benefit the female by reducing insertion times and thus shortening copulation time, and by tightening her control over which males sire her offspring. Asygyna has a range of other bizarre sex-related morphologies, including prosomal pits and a well developed stridulatory mechanism in both sexes, a male proboscis, and simplified palps. A phylogenetic analysis, including 63 taxa and 242 morphological characters, places Asygyna in Pholcommatinae, sister to the enigmatic genus Carniella. © 2006 The Linnean Society of London, Biological Journal of the Linnean Society, 2006, 87, 211–232.

Genital variation within and between three closely related Euxoa moth species: testing the lock‐and‐key hypothesis

AbstractGenital morphology shows peculiar patterns of variation among insect species. Traditionally, genital species specificity has been assumed to serve as a mechanical isolation system between species (the lock‐and‐key hypothesis). Most recent studies suggest, however, that such variation may also be because of sexual selection. These two hypotheses give different predictions on genital variation within and between species. We tested the lock‐and‐key hypothesis by morphometrically exploring variation and allometry in male genitalia in three closely related Euxoa moth species. Single genital characteristics usually show overlap between species. As a whole, internal genitalia distinguish species better than external genitalia. The size of genitalia is generally correlated with body size, but the relationship is strongly negatively allometric so that the size of internal genitalia increases least with body size. These findings support the lock‐and‐key hypothesis. Both external and internal male genitalia show morphometric variation both within and between species, but the variation is significantly smaller in external genitalia. As internal genitalia are assumed to work as ‘keys’ in moths, this finding does not support the predictions of the lock‐and‐key hypothesis. Therefore, we cannot unambiguously support or reject this hypothesis. Our results agree well with the sexual selection hypotheses, particularly, the one‐size‐fits‐all concept of the cryptic female choice hypothesis, which suggests stabilizing selection on genital size, but at the same time allows genital shape to vary relatively considerably.

17β-Hydroxysteroid dehydrogenase-3 deficiency: A rare endocrine cause of male-to-female sex reversal

Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3), due to mutations in the gene encoding the enzyme, results in a rare autosomal recessive form of male-to-female sex reversal. Mutated genes encode an abnormal enzyme with absent or reduced ability to convert Δ4-androstenedione to testosterone in the testis. Affected individuals are genetically males who developed internal male Wolffian structures but female external genitalia. Such individuals are usually raised as females and diagnosis is made at puberty, when they show virilization. Correct diagnosis is mandatory to optimize treatment and follow-up. In the present paper we report the clinical history, endocrine evaluation and molecular genetics of a prepubertal girl affected by 17β-HSD3 deficiency, in whom an erroneous diagnosis of androgen insensitivity syndrome was made. The clinical, endocrine and genetic features of 17β-HSD3 deficiency are also reviewed.

Tubular hermaphrodite with teratoma of the internal genitalia

Tubular hermaphrodite with teratoma of the internal genitalia

Fetale Harntraktveränderungen

Improvements in ultrasound technology and the appropriate timing of antenatal ultrasound has led to refined prenatal diagnosis and enhanced accuracy of diagnosis of fetal renal anomalies and makes it possible to treat obstructive and/or refluxing uropathies before the onset of clinical symptoms. The third trimester renal sonography is the most important to detect hydronephrosis amenable to treatment.Classically, the prenatal diagnosis of hydronephrosis, unilateral renal agenesis, or MDKD initiates postnatal investigations, including sonography, voiding cystourethrography (VCUG), and isotopic renography. The exact degree of renal pelvic dilatation that requires full postnatal investigation is still not entirely resolved. Most authors accept the upper limit of 7 mm for the AP diameter of the renal pelvis. The US examination should be performed after the physiological dehydration period, namely 3-5 days after birth, in an urgent case on the 1st day. A meticulous ultrasound examination performed by a physician who is familiar with the renal abnormalities shows the whole extent of underlying pathology. The role of MR urography in the work-up of renal anomalies, particularly of hydronephrosis, is currently being investigated. Due to the close developmental relationship of the urinary and genital tracts, malformations frequently occur in both of these systems. Therefore in all patients, especially in girls with renal anomalies (unilateral renal agenesis, multicystic dysplastic kidney disease), the internal genitalia need to be evaluated.

Requirement ofabdominal-AandAbdominal-Bin the developing genitalia ofDrosophilabreaks the posterior downregulation rule

The genitalia of Drosophila derive from the genital disc and require the activity of the Abdominal-B (Abd-B) Hox gene. This gene encodes two different proteins, Abd-B M and Abd-B R. We show here that the embryonic genital disc, like the larval genital disc, is formed by cells from the eighth (A8), ninth (A9) and tenth (A10) abdominal segments, which most likely express the Abd-B M, Abd-B R and Caudal products, respectively. Abd-B m is needed for the development of A8 derivatives such as the external and internal female genitalia, the latter also requiring abdominal-A (abd-A), whereas Abd-B r shapes male genitalia (A9 in males). Although Abd-B r represses Abd-B m in the embryo, in at least part of the male A9 such regulation does not occur. In the male A9, some Abd-B m(-)r(-) or Abd-B r(-) clones activate Distal-less and transform part of the genitalia into leg or antenna. In the female A8, many Abd-B m(-)r(-) mutant clones produce similar effects, and also downregulate or eliminate abdominal-A expression. By contrast, although Abd-B m is the main or only Abd-B transcript present in the female A8, Abd-B m(-) clones induced in this primordium do not alter Distal-less or abd-A expression, and transform the A8 segment into the A4. The relationship between Abd-B and abd-A in the female genital disc is opposite to that of the embryonic epidermis, and contravenes the rule that posteriorly expressed Hox genes downregulate more anterior ones.

Sex and congenital diaphragmatic hernia

Human studies note sex reversal syndromes and sex difference(s) in the incidence of congenital diaphragmatic hernia (CDH). Epidemiology surveys record a higher incidence of CDH in females, whilst other reports cite a higher frequency in males. Nitrofen, a teratogen, produces experimental CDH. This agent is speculated to interfere with retinoid acid-steroid signalling pathways and may also be linked with sexual differentiation. This study was designed therefore to test the hypothesis that nitrofen may influence sexual phenotype and frequency of CDH. Time mated Sprague Dawley rats were dosed with nitrofen at day 9.5 to generate predominantly left sided CDH. Fetuses were delivered by caesarean section on days 20 or 21 of gestation (term=day 22). External genitalia were examined to define external genital phenotype. The abdominal cavity was opened and the genito-urinary system carefully examined. The internal genital organs were assigned a phenotype and findings correlated with external appearances. The diaphragm of each fetus was studied for the absence or presence of CDH and the laterality of defect recorded. Controls (non nitrofen fed) were used for all comparative analysis. Control (n=600) and nitrofen exposed offspring (n=504) had equal frequencies of males and females. CDH occurred with similar incidence in male and female nitrofen treated pups. In all nitrofen exposed fetuses and normal controls, internal and external genitalia concorded without evidence of significant genital tract malformations or intersex states. Prenatal nitrofen exposure is not associated with significant gender differences (or prenatal loss) in the risk of CDH. Genital tract malformations do not appear to accompany CDH in the nitrofen model.

Genetic mechanisms of fetal male undermasculinization: A background to the role of endocrine disruptors

Fetal male sex development proceeds along an orderly sequence of events coordinated by an interplay of genetic and hormonal events. These operate in a time- and concentration-dependent manner. Once a testis is formed (the female sex being constitutive in nature), differentiation of the internal and external male genitalia is androgen dependent. A number of genetic syndromes of sex reversal are well characterized at the biochemical and molecular levels. They fall into three principal categories: defects in formation of the testis, defects in production of androgens, and defects in the action of androgens. In many instances, the precise cause is not established, although the investigative evidence points in the direction of one of the three stated classifications. Polymorphic variants in several of the genes involved in male development are associated with certain degrees of male undermasculinization. While the genetic background is essentially static, it is plausible that the effect of endocrine disruptors during fetal life acting through epigenetic mechanisms may partly explain the observed changing trends in male reproductive tract disorders.

A new species of the spider genus Matta Crosby from Brazil (Araneae: Tetrablemmidae)

Matta angelomachadoi new species from the states of Alagoas and Bahia, Brazil, is described and details of the female internal genitalia are presented. This is the second species of Matta described from South America and it seems to be restricted to the Atlantic Forest in the Brazilian coast.

Robotics in paediatric urology

After the emergence of robotically assisted systems in laparoscopic surgery more than 15 years ago, several systems have been on the market. At the time being only one system, the da Vinci surgical system (Intuitive Surgical, Sunnyvale, CA, USA), has survived in clinical use with an increasing spread particularly among adult urologists used primarily for radical prostatectomies. However, the reconstructive nature of paediatric urology makes the system interesting for the paediatric urologists, since its strength is laparoscopic suturing and difficult dissection. So far only few reports have been published about its clinical use in paediatric urology. The main advantages are the 3D magnified view, the wrist-like movements of the instruments, and the scaling and precision of instrument movements. The system has been used for upper tract reconstruction like pyeloplasties and heminephrectomies, both for the transperitoneal and, more technical challenging, the retroperitoneal approach. In the pelvic region, anti-reflux surgery (both extra- and intravesically) and surgery for malformations of the internal genitalia like utriculus cysts and gonadal streaks are feasible. More simple procedures like nephrectomies and the management of the intra-abdominal testis are not justified due to the high costs. In addition, no advantage for the patients related to standard laparoscopic procedures has been proofed yet. For the surgeon the minimally challenging invasive procedures become feasible with certainly improved ergonomics. The use of the system is much easier than standard laparoscopic surgery and its widespread will give more patients to access minimal invasive surgery.

Cystectomy – Technical Considerations in Male and Female Patients

Simple and radical cystectomy for the treatment of benign and malignant bladder disease goes back to the late 19th century. The technique has changed over the last century due to increasing surgical experience, improvements in medical technology and pharmacology, an evolving technique of urinary diversion and an increase in patients demand for post-operative quality of life. Approximately two decades ago the orthotopic bladder substitution became popular in male patients, whereas in female patients the use of an orthotopic neobladder to a remnant portion of the female urethra started only a decade ago and still does not include the majority of female patients undergoing cystectomy. The major goal of cystectomy for malignant disease in the pelvis is the oncological outcome. Without compromising tumour resection, however, functional results, i.e. continence, volitional voiding, potency and sexual intercourse play an increasingly important role for this type of surgery. This is especially important for a bladder confined disease which has a better long-term tumour outcome, but on the other hand the use of radical surgery for these stages is still debated in favour of more conservative bladder sparing forms of treatment with less favourable outcome. The technique of radical cystectomy and lymphadenectomy both in male and female patients with regards to preservation of the urethra is outlined. In addition technique of sparing autonomic nerves both to the membranous urethra and the penis or the external and internal female genitalia is described. Surgical variations based on recent anatomic and clinical findings are presented and discussed with regards to the best functional outcome in male and female patients.

Primary infertility after genital mutilation in girlhood in Sudan: a case-control study

In theory, infections that arise after female genital mutilation (FGM) in childhood might ascend to the internal genitalia, causing inflammation and scarring and subsequent tubal-factor infertility. Our aim was to investigate this possible association between FGM and primary infertility. We did a hospital-based case-control study in Khartoum, Sudan, to which we enrolled women (n=99) with primary infertility not caused by hormonal or iatrogenic factors (previous abdominal surgery), or the result of male-factor infertility. These women underwent diagnostic laparoscopy. Our controls were primigravidae women (n=180) recruited from antenatal care. We used exact conditional logistic regression, stratifying for age and controlling for socioeconomic status, level of education, gonorrhoea, and chlamydia, to compare these groups with respect to FGM. Of the 99 infertile women examined, 48 had adnexal pathology indicative of previous inflammation. After controlling for covariates, these women had a significantly higher risk than controls of having undergone the most extensive form of FGM, involving the labia majora (odds ratio 4.69, 95% CI 1.49-19.7). Among women with primary infertility, both those with tubal pathology and those with normal laparoscopy findings were at a higher risk than controls of extensive FGM, both with borderline significance (p=0.054 and p=0.055, respectively). The anatomical extent of FGM, rather than whether or not the vulva had been sutured or closed, was associated with primary infertility. Our findings indicate a positive association between the anatomical extent of FGM and primary infertility. Laparoscopic postinflammatory adnexal changes are not the only explanation for this association, since cases without such pathology were also affected. The association between FGM and primary infertility is highly relevant for preventive work against this ancient practice.

Diagnostic applications of ultrasonography to stallion's reproductive tract

Although ultrasound evaluation of the reproductive tract of stallions was introduced to veterinary practice long ago, this examination is not always conducted during routine breeding soundness evaluation. The objective of this study was to investigate the clinical relevance of routine ultrasound evaluation of the stallion's reproductive tract. Breeding soundness evaluation of 113 stallions was performed, including ultrasonography of external and internal genitalia. Various pathological conditions were detected using this technique, with the most frequent being varicocele, thickened vaginal tunics and cystic structures. Varicocele and thickened vaginal tunics were associated with decreased quality of semen, while cysts of the epididymal head, urethra and uterus masculinus were frequently associated with ejaculatory problems. These findings suggested that routine ultrasound evaluation of breeding stallions may be very helpful in detecting pathological conditions that may impact their reproductive career.

Evaluation of Kidney Anomalies in Congenital Scoliosis

Evaluation of Kidney Anomalies in Congenital Scoliosis

Evaluation and management of the abnormal gonad

Diagnostic evaluation of patients with an abnormal gonad is complex because of multifactoral etio-pathogenesis and rarity of the conditions. In the text to follow, we have briefly discussed the embryology and attempted to classify abnormal gonadal disorders. The aims of evaluating such a child are to: (1) establish genetic sex; (2) determine the hormonal milieu; (3) evaluate the anatomy of internal and external genitalia and gonads; and (4) in older children, assess the phenotypic and psychological sex. In newborn children with ambiguous genitalia, the focus is now on accurate gender assignment. A team approach is needed and decisions are based on likely prognosis for behavior and gender orientation. The recent advances in cytogenetics have proven to be helpful in early and accurate diagnosis. In patients with an abnormal gonad, four conditions can present with sexual ambiguity at birth: female pseudohermaphroditism (or "virilized female"), true hermaphroditism, male pseudohermaphroditism (or "undervirilized male") and mixed gonadal dysgenesis. The role of clinical history and examination is emphasized in differential diagnosis and management. Timing of surgery for each of the conditions is discussed.