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PubMed1998

Basal cell carcinoma of the genitalia.

BACKGROUND: Basal cell carcinomas (BCC) arising on the genitalia are exceedingly rare with an unclear pathogenesis. OBJECTIVE: To better understand risk factors, tumor characteristics, and the possible role of human papillomavirus (HPV) in the development of BCC of the genitalia. METHODS: 1543 records of Mohs micrographic surgery performed during a 6-year period were reviewed to identify cases of BCC arising on the genitalia. Tumor tissue was analyzed for HPV DNA by in situ hybridization. RESULTS: Four patients with BCC of the genitalia were treated with Mohs micrographic surgery. The malignancies were located on the scrotum, perineum, and perianal areas in the three male patients and on the vulva in the female patient. The mean age was 67 years. None of the patients had prior history of skin cancers. Histologic evaluation of the tumors revealed two nodular subtypes, one superficial subtype, and one with follicular differentiation. In situ hybridization failed to reveal DNA of HPV types 6, 11, 16, 18, 30, 31, 33, 35, 45, 51, and 52. CONCLUSION: In this small series, genital BCC occurred in an older age group with no identifiable predisposing risk factors and did not show evidence of HPV infection.

Aged↗
PubMed2003

Regulation of outgrowth and apoptosis for the terminal appendage: external genitalia development by concerted actions of BMP signaling [corrected].

Extra-corporal fertilization depends on the formation of copulatory organs: the external genitalia. Coordinated growth and differentiation of the genital tubercle (GT), an embryonic anlage of external genitalia, generates a proximodistally elongated structure suitable for copulation, erection, uresis and ejaculation. Despite recent progress in molecular embryology, few attempts have been made to elucidate the molecular developmental processes of external genitalia formation. Bone morphogenetic protein genes (Bmp genes) and their antagonists were spatiotemporally expressed during GT development. Exogenously applied BMP increased apoptosis of GT and inhibited its outgrowth. It has been shown that the distal urethral epithelium (DUE), distal epithelia marked by the Fgf8 expression, may control the initial GT outgrowth. Exogenously applied BMP4 downregulated the expression of Fgf8 and Wnt5a, concomitant with increased apoptosis and decreased cell proliferation of the GT mesenchyme. Furthermore, noggin mutants and Bmpr1a conditional mutant mice displayed hypoplasia and hyperplasia of the external genitalia respectively. noggin mutant mice exhibited downregulation of Wnt5a and Fgf8 expression with decreased cell proliferation. Consistent with such findings, Wnt5a mutant mice displayed GT agenesis with decreased cell proliferation. By contrast, Bmpr1a mutant mice displayed decreased apoptosis and augmented Fgf8 expression in the DUE associated with GT hyperplasia. These results suggest that some of the Bmp genes could negatively affect proximodistally oriented outgrowth of GT with regulatory functions on cell proliferation and apoptosis. The DUE region can be marked only until 14.0 dpc (days post coitum) in mouse development, while GT outgrowth continues thereafter. Possible signaling crosstalk among the whole distal GT regions were also investigated.

Animals↗
PubMed2005

Requirement of Abdominal-A and Abdominal-B in the developing genitalia of Drosophila breaks 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.

Animals↗
PubMed2001

Unique functions of Sonic hedgehog signaling during external genitalia development.

Coordinated growth and differentiation of external genitalia generates a proximodistally elongated structure suitable for copulation and efficient fertilization. The differentiation of external genitalia incorporates a unique process, i.e. the formation of the urethral plate and the urethral tube. Despite significant progress in molecular embryology, few attempts have been made to elucidate the molecular developmental processes for external genitalia. The sonic hedgehog (Shh) gene and its signaling genes have been found to be dynamically expressed during murine external genitalia development. Functional analysis by organ culture revealed that Shh could regulate mesenchymally expressed genes, patched 1 (Ptch1), bone morphogenetic protein 4 (Bmp4), Hoxd13 and fibroblast growth factor 10 (Fgf10), in the anlage: the genital tubercle (GT). Activities of Shh for both GT outgrowth and differentiation were also demonstrated. Shh(-/-) mice displayed complete GT agenesis, which is compatible with such observations. Furthermore, the regulation of apoptosis during GT formation was revealed for the first time. Increased cell death and reduced cell proliferation of the Shh(-/-) mice GT were shown. A search for alterations of Shh downstream gene expression identified a dramatic shift of Bmp4 gene expression from the mesenchyme to the epithelium of the Shh mutant before GT outgrowth. Regulation of mesenchymal Fgf10 gene expression by the epithelial Shh was indicated during late GT development. These results suggest a dual mode of Shh function, first by the regulation of initiating GT outgrowth, and second, by subsequent GT differentiation.

Animals↗
PubMed1988

Activation of phospholipases during masculine differentiation of embryonic genitalia.

We have investigated whether the androgen-induced masculine differentiation of the sex organs involves an induction of phospholipases. We have measured phosphatidylinositol-specific phospholipase C and phosphatidylcholine-specific phospholipase A2 in the reproductive tract of male and female mouse (CD-I) fetuses at the 18th day of gestation. We report here that (1) the activity of these two enzymes is higher in the male genitalia than in the female genitalia; (2) exogenous testosterone at the 13th to 17th day of pregnancy induces both phospholipase A2 and phospholipase C in the female fetal genitalia; and (3) prenatal administration of cyproterone acetate, an antiandrogen, known to produce feminized males, completely prevents the stimulation of phospholipase A2 and C by testosterone in the female fetuses. In the male fetuses, however, cyproterone acetate inhibits the PLC activity but is unable to alter phospholipase A2 activity. These findings provide evidence that the mechanism by which testosterone organizes the genitalia may involve a modification of phospholipases A2 and C.

Animals↗
PubMed1999

The sonographic appearance of normal and abnormal fetal genitalia.

PURPOSE: Prenatal sonography has evolved through advancements in imaging technology and observer experience. This review focuses on our current knowledge of the sonographic appearance of normal and abnormal fetal genitalia. MATERIALS AND METHODS: A MEDLINE computerized reference and manual bibliography reviews were performed to find pertinent peer-reviewed articles on the sonographic appearance of normal and abnormal fetal genitalia. RESULTS: The sonographic appearance of the normal fetal genitalia has been defined. The male phallus can be visualized as early as 10 to 11 weeks of gestation, while testicular descent is not seen before 26 weeks. Hydroceles are commonly detected. In the female subject the labia majora and labia minora are visible by 15 weeks. Hydrometrocolpos due to uterovaginal anomalies can be seen as early as 26 weeks. CONCLUSIONS: Advances in prenatal sonography enable one to diagnose late first trimester gender. Sonography of the fetal genitalia complements fetal sex determination in cases of intersex, X-linked disorders or gender specific fetal anomalies, and is an important tool with increasing indications in prenatal medicine.

Female↗
PubMed2004

[Decision-making process about sex assignment in the neonate with ambiguous genitalia].

Although diagnoses and etiologies of underlying disorders of sexual differentiation can be carefully delineated through biochemical, imagine, and chromosomal analyses, the decision-making process about sex assignment in the newborn with ambiguous genitalia is in a state of controversy. The conventional way for the approach to these neonates consists of 4 principles; 1) Urgency of diagnosis and sex assignment, so that early surgical reconstruction could obviate the fear of the parents with each diaper change. 2) Adequacy of the phallus as a male. 3) Fertility, especially 46XX female are sex assigned female because of potential fertility. 4) Cosmetic appearance of the reconstructed genitalia based on the recognition that external female genitalia are generally easier to construct than male. Contrary to these conventional methods, some researchers insist on flexibility in the clinical approach to provide the best possible outcome. It is getting apparent that the quantity, timing, and duration of androgen exposure will play a role in determining the degree of masculinization of the brain, which may potentially decide gender identity before 18 months of age or even in utero, and may influence the psychosexual development of the child. Flexibility in decision-making will allow for options not to remove any tissues including gonads and internal sex organs, or to reconstruct the genitalia until he or she is sure of the gender. This new approach must be proved in the future.

Adolescent↗
PubMed1985

Anthropometric study of male external genitalia of 320 healthy Nigerian adults.

Five basic measurements of the male external genitalia were studied in 320 healthy male medical students belonging to the various parts of Nigeria (West Africa). Their ages range from 17 to 23 years. The measurements were as follows: average length of the penis (81.6 +/- 0.94 mm); circumference of the penis (88.3 +/- 0.02 mm); circumference of the scrotum (212.6 +/- 2.48 mm); length of right testis (46.8 +/- 0.54 mm); width of right testis (32.4 +/- 0.37 mm); length of left testis (46.0 +/- 0.53 mm); and width of left testis (31.4 +/- 0.36 mm). The size of the genitalia increases with the increase in age in younger year groups. The adult stages of genitalia development are reached at the age of 21 years in 89.0% of the individuals. The growth of the genitalia is continued with the increasing height and weight, but this growth slows down after attaining a definite height and weight.

Adolescent↗
PubMed1971

Genital ducts and external genitalia: development and anomalies.

Human wolffian ducts are considered to be of ectodermal origin. Developing müllerian ducts in the area of the mesonephric ducts grow in contact with wolffian ducts. Vaginal differentiation occurs only if müllerian ducts contact the urogenital sinus, inducing proliferation of the entodermal epithelium and if the caudal ends of the müllerian ducts do not regress. Development of the external genitalia and the role of fetal androgens are discussed. Malformations of the external genitalia are classified pathogenetically as steroid-independent and steroid-dependent. Definitions for steroid-dependent malformations such as ambiguous genitalia, hypospadic genitalia, phallus, hypertrophic and peniform clitoris are presented.

Androgens↗
PubMed1983

The epidemiology of bacterial infection of the genitalia in rams.

The interrelationship between the various bacteria isolated from the genital tract of rams and their host animals was studied. The pathogenicity of the different isolates varied. Several of these bacteria could be cultured in a medium consisting of a suspension of pen floor debris solidified with agar, while many organisms survived in the suspension for 10 days. Epidemiological investigations showed that rams kept under intensive systems were subjected to large-scale invasion of their genitalia by bacteria which led to infection of the accessory glands and orchitis and epididymitis. Apart from the preputial cavity, some rams kept on open range were entirely free of bacterial infection of their genitalia, and those that did have bacteria in the deeper parts of their genitalia had a very significantly lower incidence of pathological lesions of their genitalia. Finding bacteria and neutrophils in semen is consistent with the epidemiological findings.

Animal Husbandry↗
PubMed1995

[Basic ideas on the diagnosis and treatment of burns of the male genitalia].

OBJECTIVES: The main characteristics of burn injuries of the male genitalia and the basic principles of treatment are described. METHODS/RESULTS: Of 77 patients in the Burns Unit of this hospital, 7 (9%) had lesions to the external genitalia. Four of these patients had superficial dermal (grade IIA), 2 had deep dermal (grade IIB) and one had total dermal or subdermal burn injuries (grade III-IV) to the genitalia. The superficial lesions were treated medically and deep burns required surgery. RESULTS: At one-year follow-up, no functional sequelae were observed except in the patient with total dermal burn injuries, who developed right testicular atrophy and azoospermia, but preserved erection and ejaculation. CONCLUSIONS: Burn injuries to the external genitalia are uncommon. These lesions do not often require surgical treatment, and usually heal spontaneously. Despite their dramatic appearance, cure with no cosmetic or functional sequelae is often the rule.

Adult↗
PubMed1987

Diagnostic approach to the newborn with ambiguous genitalia.

When assessing an infant with ambiguous genitalia, there are some important points to remember: Do not delay the evaluation of a patient with ambiguous genitalia. A delay may expose the patient unnecessarily to a life-threatening situation, such as a salt-losing crisis associated with 21-hydroxylase deficiency or one of the testosterone biosynthetic defects. Also, it is unfair to expect the family to be able to deal emotionally with the uncertainty of unresolved gender assignment. Never perform a buccal smear. There is absolutely no indication for performing a buccal smear at any point in the evaluation of any patient with ambiguous genitalia. Use of a buccal smear to determine gender assignment was helpful decades ago, before analysis of human chromosomes was possible. With current cytogenetic methodologies that can detect chromosomal mosaicism and subtle abnormalities of the X and Y chromosomes, there is never an indication to perform a buccal smear. Never make a gender assignment on the basis of the appearance of the external genitalia alone. The chromosomal sex and gonadal sex need to be determined first. The parents' feelings regarding the desired sex of the child, gender identity and fertility need to be discussed. Once there are sufficient data, gender assignment can be made. Gender assignment should be made as soon as possible after birth, but absolutely should be made by 18 months of age, when children develop gender identity. Never equivocate in the assignment of gender. The parents and the physicians must be absolutely certain of the gender assignment and must view their decision as final. Follow-up visits with the family ideally include an assessment of their acceptance of the gender assignment of the child. If there is ambivalence, steps must be taken to identify the source of ambivalence and to clarify the issues.

Disorders of Sex Development↗
PubMed1999

Involvement of internal genitalia in female patients undergoing radical cystectomy for bladder cancer: a clinicopathologic study of 37 cases.

Radical cystectomy for invasive bladder cancer in female patients implies anterior pelvic exenteration. The necessity for routine removal of all internal female genitalia has not, as yet, been investigated. The present study was conducted to investigate the involvement of internal genitalia in these patients. Cystectomy specimens from 37 consecutive female patients with bladder cancer were examined for internal genitalia and urethral involvement. Clinical data were retrospectively collected from hospital charts. Thirty-four patients were available for postoperative follow-up. Of the 37 cases, 30 were transitional cell carcinoma (TCC), 4 squamous cell carcinoma, 1 adenocarcinoma, and 2 undifferentiated carcinoma. Uterine involvement was observed in only 1 case: TCC, stage D1, grade IV. All patients had normal ovaries and a normal vagina regardless of tumor site or stage; however, late ovarian and vaginal recurrences developed in one patient, in whom one ovary had been preserved. Sixteen percent of the patients had urethral involvement. We conclude that synchronous or metachronous involvement of female internal genitalia in bladder cancer is uncommon. Preservation of ovaries and vagina in young patients undergoing radical cystectomy may be considered under strict criteria.

Journal Article↗
PubMedDate not supplied

Utilization of skin flap for reconstruction of the genitalia after an electric burn.

The objective of this article is to describe a case of an electric burn to the genitalia causing scrotal and testicular lesion, and the subsequent reconstruction using a skin graft. The patient was a 10-year-old boy who was victim of an electric burn that harmed the genitalia. There was extended skin loss, penile, scrotal and partial testicular lesion. The treatment consisted of plastic surgery to reconstruct the genitalia with skin flaps grafted on the left thigh, the scrotum and the base of the penis. The patient recovered well and was discharged after two weeks. We concluded that in severe cases of electric burns to the genitalia, skin graft offer a good therapeutic option.

Burns, Electric↗
PubMed1997

Morphogenesis of the human external male genitalia.

The morphogenesis of the external genitalia of human fetuses (16-250 mm crown-rump [CR] length, 6-26 weeks of gestation) obtained after medical termination of pregnancy were studied. Differential development (male/female) started after 50 mm CR length (9 weeks). At that time the external genitalia consisted of a cylindrical genital tubercle 2 mm in length with a visible coronary sulcus and glans and genital swellings on either side. A groove on the ventral aspect of the genital tubercle extended to the coronary sulcus; the lateral boundaries of this groove separated to form the urethral folds. In male fetuses the free edges of the urethral folds fused, starting from the proximal end, to form a tunnel over the ventral aspect of the phallus. The pelvic urethra opened into this tunnel, slightly distal to its origin. The mesodermal tissue forming the genital swellings migrated ventrally and then medially. As medial migration started, the skin in the midline between the genital swellings was raised up as a skin fold, which subsequently, as the genital swellings migrated further, became elevated. The proximal part of the tunnel formed by fusion of the urethral folds (proximal to the point of entry of the pelvic urethra) also was compressed and pushed out as the genital swellings fused in the midline over the root of the phallus. These changes took place at between 80 and 110 mm CR length (12-13 weeks' gestation); at this stage the phallus appeared short and was bent ventrally. With further growth and caudal migration of the scrotum, the phallus lost its ventral curvature. The appearance of the external genitalia at different gestational ages bore a close resemblance to that in children with hypospadias. We therefore conclude that hypospadias can be explained on the basis of an embryological arrest due to the absence of the required stimulus for male phenotypic development at the appropriate time.

Crown-Rump Length↗
PubMed1990

Are the genitalia of anatomical dolls distorted?

Allegations have been made that anatomical dolls have genitalia which are disproportionately large and which may suggest sexual activity to children who have not been abused. The genitalia and breasts of 17 sets of anatomical dolls were measured. When the measurements were extrapolated to adult human proportions, the sizes of the genitalia and breasts were not found to be exaggerated.

Adult↗
PubMed2002

Vaginal reconstruction for ambiguous genitalia and congenital absence of the vagina: a 27-year experience.

BACKGROUND/PURPOSE: Gender assignment to a neonate with ambiguous genitalia is crucial. Patients with an absent vagina require the construction of an artificial vagina. In an effort to improve care, the authors have categorized their experience with this group of children. METHODS: Since 1974, we cared for 114 patients with anomalies of the genitalia. There were 53 genotypic girls with congenital adrenal hyperplasia (CAH), 16 genotypic boys with testicular feminization syndrome (TFS), 13 with mixed gonadal dysgenesis (MGD), 9 with Mayer-Rokitansky syndrome, and 4 true hermaphrodites. The remaining 19 had other genital abnormalities. RESULTS: After 1980, patients with CAH underwent clitoral recession and vaginoplasty. All patients with TFS were raised as girls and underwent orchidectomy. Eleven of the MGD patients were given a female sex assignment and underwent gonadectomy. Twenty-eight patients underwent intestinal vaginoplasty including 8 of the TFS patients, 9 with Mayer-Rokitansky syndrome, 8 patients with cloacal anomalies, 2 patients for rhabdomyosarcoma, and 1 of the MGD patients. CONCLUSIONS: (1) This review emphasizes the range of diagnoses the surgeon must be prepared to address in patients with ambiguous genitalia. (2) Colovaginoplasty is an excellent procedure for replacement of a completely absent vagina. (3) Continued evaluation of this group will delineate appropriate timing and choice of procedure.

Adolescent↗
PubMed2001

External genitalia formation: role of fibroblast growth factor, retinoic acid signaling, and distal urethral epithelium.

The process of fetal external genitalia development might be divided into two processes. The first process accomplishes the initial outgrowth of the anlage, genital tubercle (GT). Previous analysis suggests that the distal urethral epithelium (DUE) of the GT, the Fgf8-expressing region, regulates the outgrowth of the GT. The second process eventually generates the sexually dimorphic development of the external genitalia, which is dependent on the action of steroid hormones. Several key genes, for example, RARs, RXRs, RALDH2, and CYP26, were dynamically expressed during GT development. The teratogenic dose of RA at 9.0 d.p.c. induced a drastic malformation of the urethral plate during GT formation, but did not show gross abnormalities in its outgrowth. In RA-treated embryos, Fgf8 expression was still detected in the distal GT regions. Possible regulatory roles of the FGF and RA signaling systems in external genitalia formation are discussed.

Abnormalities, Drug-Induced↗