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PubMed2004

Regulation of external genitalia development by concerted actions of FGF ligands and FGF receptors.

Members of the fibroblast growth factor (FGF) family play diverse roles during the development and patterning of various organs. In human and mice, 22 FGFs and four receptors derived from several splice variants are present. Redundant expression and function of FGF genes in organogenesis have been reported, but their roles in embryonic external genitalia, genital tubercle (GT), development have not been studied in detail. To address the role of FGF during external genitalia development, we have analyzed the expression of FGF genes (Fgf8, 9, 10) and receptor genes (Fgfr1, r2IIIb, r2IIIc) in GT of mice. Furthermore, Fgf10 and Fgfr2IIIb mutant mice were analyzed to elucidate their roles in embryonic external genitalia development. Fgfr2IIIb was expressed in urethral plate epithelium during GT development. Fgfr2IIIb mutant mice display urethral dysmorphogenesis. Marker gene analysis for urethral plate and bilateral mesenchymal formation suggests the existence of epithelial-mesenchymal interaction during urethral morphogenesis. Therefore, FGF10/FGFR2IIIb signals seem to constitute a developmental cascade for such morphogenesis.

Animals↗
PubMed2005

Increased serum estrogenic bioactivity in three male newborns with ambiguous genitalia: a potential consequence of prenatal exposure to environmental endocrine disruptors.

In the past 15 years, anomalies of male sexual differentiation have greatly increased in both wildlife and humans in different parts of the world. Environmental endocrine disruptors have been implicated in the dramatic rise in neonatal ambiguous genitalia with variable rates of severity, such as micropenis, cryptorchidism, and isolated or associated hypospadias. Because most environmental pollutants, such as organochlorine pesticides, polychlorinated biphenyls, dioxins and furans, alkylphenol polyetholyethoxylates, and phytoestrogens and phtalates, have estrogenic and antiandrogenic activity, they are able to interfere with normal fetal male sexual differentiation. In a neonatal screening program of ambiguous genitalia, we had the opportunity to evaluate three newborns with male pseudohermaphroditism (MPH) whose mothers were exposed to endocrine disruptors during pregnancy. All had normal testosterone production after human chorionic gonadotrophin stimulation testing, suggesting androgen resistance or so-called idiopathic MPH. Sequences of the 5alpha reductase and androgen receptor genes were normal. Since environmental pollutants are known for their estrogenic activity and can be released progressively from the adipose tissue where they accumulate, we detected their presence by measuring the estrogenic bioactivity of the newborns' serum with a recently developed ultrasensitive bioassay. We found higher estrogenic bioactivity in these newborns than in controls. In conclusion, the maternal exposure to environmental pollutants during pregnancy and high estrogenic bioactivity in the newborns' serum highly suggest that ambiguous genitalia are related to fetal exposure to endocrine disruptors.

Agriculture↗
PubMed1988

Clinical and anatomical studies of the camel (Camelus dromedarius) genitalia.

Clinical and anatomical studies of the genitalia of 294 camel (197 males and 97 females) were carried out between May 1984 and October 1985. Preslaughter (clinical) examination was followed by detailed post-mortem (anatomical) examination and dissection of genitalia at the abattoir. Measurements and weights of the various segments of genitalia were made to establish the baseline data for breeding soundness evaluation in the dromedary in Northern Nigeria.

Journal Article↗
PubMed2001

Objective cosmetic and anatomical outcomes at adolescence of feminising surgery for ambiguous genitalia done in childhood.

There are few, if any data on the long-term outcome of feminising genital surgery for children with ambiguous genitalia. We present a retrospective study of cosmetic and anatomical outcomes in 44 adolescent patients who had ambiguous genitalia in childhood and underwent feminising genital surgery. Cosmetic result was judged as poor in 18 (41%) of these patients. 43 (98%) of 44 needed further treatment to the genitalia for cosmesis, tampon use, or intercourse. 23 (89%) of 26 of genitoplasties planned as one-stage procedures required further major surgery. This information must be available to parents and clinicians planning such surgery. Cosmetic genital surgery in infancy needs to be reassessed in the light of these results.

Adolescent↗
PubMed2002

Necrotizing gangrene of the genitalia and perineum.

BACKGROUND: Necrotizing gangrene of the genitalia and perineum is a fulminant, life-threatening condition. This infection is usually polymicrobial and may be idiopathic or secondary to local trauma or surgery. Histologically, it is characterized by obliterative endarteritis and thrombosis of the subcutaneous vessels, fascial necrosis, and leukocytic infiltration. Mortality rates of 25-75% have been reported. Most cases of necrotizing gangrene begin insidiously, with scrotal discomfort and malaise. Later, erythema, increasing pain, and swelling, associated with fever and chills, develop. A biopsy is useful to confirm the clinical diagnosis and to obtain culture samples. Ultrasound imaging may reveal gas or testicular involvement and may help to distinguish this infection from other causes of scrotal pathology. MATERIALS AND METHODS: Fifteen patients with necrotizing gangrene of the genitalia and perineum, seen at the Dermatology and Plastic Surgery Sections of our Institutions between 1994 and 1999, are described. RESULTS: This series included 11 men (73%) and four women (27%), aged 39-68 years (mean, 51 years). In our series, Clostridium perfingens, Staphylococcus aureus, Proteus mirabilis, Pseudomonas aeruginosa, Streptococcus viridans, Acinetobacter baumani, Escherichia coli, and Candida albicans were isolated. Hemodynamic stabilization and monitoring were performed in all patients. Intravenous antimicrobial therapy was promptly instituted. In most cases, two or more drugs were used. Concurrent surgical debridement of all necrotic areas was always required. When needed, split-thickness skin grafts were used to cover the penile shaft. Expanded mesh grafts were used to reconstruct the vulva and other denuded beds. The survival rate in this series was 87%. CONCLUSIONS: Necrotizing gangrene of the genitalia and perineum continues to be a diagnostic and therapeutic challenge. The usual polymicrobial infection with vascular involvement demands hemodynamic stabilization, systemic antimicrobial therapy, and surgical debridement. In some patients, genital, perineal, and abdominal wall reconstruction is also required.

Adult↗
PubMed2002

Ambiguous genitalia in the newborn.

Ambiguous genitalia in the newborn need immediate and rational management. This complex situation requires a strategy of clinical, hormonal, genetic, molecular, and radiographic investigation to determine the etiology of the intersex state and orient the therapeutic approach. Physical examination is key to diagnosis. Careful palpation to locate gonads at the genital folds or in the inguinal region provides the first element for diagnostic orientation. If gonads are absent, a diagnosis of female pseudohermaphroditism seems advisable; if gonads are palpated, a diagnosis of male pseudohermaphroditism is more appropriate. Karyotyping is systematic while polymerase chain reaction (PCR) analysis of the SRY gene provides information about the presence of a Y chromosome within 1 day. Hormonal investigation should be based on clinical and genetic orientation. Substantially elevated plasma 17-OH progesterone will confirm the diagnosis of congenital adrenal hyperplasia due to deficiency in 21-hydroxylase. Testicular stimulation with human chorionic gonadotropin (hCG) will determine the functional value of testicular tissue. Exploration of the genitourinary axis is principally carried out by ultrasound and genitography. By the end of these investigations, the medical team should be able to give a precise diagnosis. Female pseudohermaphroditism may be due to excess fetal androgens (congenital adrenal hyperplasia), increased androgen production of maternal origin, or placental androgen excess. In male pseudohermaphroditism, if testosterone rises normally after hCG stimulation, androgen resistance is indicated. If it does not rise after this test, either testicular dysgenesis or disturbance in testosterone biosynthesis may be responsible. The assignment of sex for rearing must be guided by the etiology of the genital malformation, the anatomic condition, and family considerations. In cases of female pseudohermaphroditism, the newborn should always be declared to be of female sex at birth. In cases of male pseudohermaphroditism, great care should be taken in the declaration of male sex: the potential for reconstructive surgery and the pubertal "programmed" response of the external genitalia to endogenous and exogenous testosterone are determinant. Management of ambiguous genitalia in the newborn requires an entire multidisciplinary team in every step of the diagnostic procedure, the choice of sex assignment, and the treatment strategy.

Disorders of Sex Development↗
PubMed2004

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene.

Mutations in the Aristaless-related homeobox (ARX) gene are associated with a broad spectrum of disorders including X-linked lissencephaly with abnormal genitalia (XLAG) and absent corpus callosum. Here, we describe a family with two male infants suffering from agenesis of the corpus callosum (ACC), intractable epilepsy, and abnormal genitalia. The phenotype of both affected patients differed in severity of the cerebral malformation with one showing no obvious evidence for lissencephaly. Both infants lacked any psychomotor development and died at the age of 17 weeks and 18 months, respectively. Genetic analysis of the ARX gene revealed a novel frameshift mutation in exon 4 (nt1419_1420insAC) leading to a shortened protein lacking the aristaless domain. In summary, analysis of the ARX gene should not only be considered in male patients with typical features of XLAG but also in those presenting with early onset epilepsy, ACC, and abnormal genitalia without obvious neuroradiological features of lissencephaly.

Abnormalities, Multiple↗
PubMed1989

[Microsurgical therapy of lymphedema of the external female genitalia].

Lymphedema of female external genitalia is an uncommon disorder, for which ablative treatment procedures have been used in the past. Such an operation is most traumatic and achieved unsatisfactory results. On the basis of our experiences in treating lymphedema of the extremities by lymphaticovenous anastomosis, the author developed a microlymphaticovenous operation for treating this condition. From March 1980 to November 1984, a total of 6 patients with lymphedema of female external genitalia were operated and good results were achieved. The edema of the vulva, clitoris, mons veneris and of the lower part of the abdominal wall has been reduced, the chylorrhea disappeared and the blisters on the edematous vulva vanished. On the basis of our clinical experiences in treating lymphedema of female external genitalia by microlymphaticovenous anastomoses, we believe, that the anastomoses should be performed early and their number should be sufficiently high. The indication, types of procedures and advantages of the operation are presented.

Adolescent↗
PubMed1998

Penetrating trauma to the male external genitalia.

BACKGROUND: We report on 40 patients with penetrating trauma to the external genitalia. Initial evaluation and management, operative findings, and treatment outcomes are reviewed. METHODS: We retrospectively reviewed the medical records of all patients presenting to our facility with penetrating trauma to the external genitalia since 1988. RESULTS: Of the 40 patients reviewed, 22 sustained isolated scrotal trauma, 10 sustained isolated penile trauma, and 8 had both scrotal and penile injuries. Twenty-nine of the 30 men with scrotal injuries underwent surgical exploration, and 21 of these were found to have injuries to the spermatic cord or testes (in 2 patients, bilateral injuries were noted). The testicular salvage rate was 35%. Penile trauma occurred in 18 patients. Eight corporal injuries and four urethral injuries were managed with debridement and primary repair. Erection and normal voiding was present in all men undergoing reconstruction who returned for follow-up. Thirty-eight percent of tested patients were positive for hepatitis B, C, or both. More than 60% of tested patients were legally intoxicated at the time of injury. Injuries separate from genitourinary trauma were identified in 72% of the men. CONCLUSION: Early surgical exploration with conservative debridement and primary repair of injured structures is recommended for most men who sustain penetrating injuries to the external genitalia. Selected patients with superficial injuries can be managed nonoperatively, but delayed wound complications are not uncommon. Although universal precautions are recommended for all patients, the high prevalence of hepatitis B and C in this group reemphasizes their importance. Long-term follow-up in this largely young, mobile, indigent population was poor.

Adolescent↗
PubMed1999

Assignment of sex in neonates with ambiguous genitalia.

Sex assignment in the newborn with ambiguous genitalia has been based on the adequacy of the phallus in the male, potential fertility in the female, and cosmetic appearance of the reconstructed genitalia. Recent data from both the neurosciences and from clinical research, however, casts doubt on the validity of such criteria for clinical decision making. Current knowledge suggests a need to shift away from the current clinical approach and to incorporate these new data into decisions based on a broader understanding of the etiology of gender identity. Recognition of the primacy of psychosocial and psychosexual developmental outcomes for children with ambiguous genitalia is lending direction to longitudinal outcomes research. New approaches to sex assignment have been suggested, and the paradigm for sex assignment in the newborn period is in transition.

Decision Making↗
PubMed2005

Developmental changes of bull (Bos taurus) genitalia as evaluated by caliper and ultrasonography.

The objective of the present study is to follow the growth of the testes and the pelvic genitalia in cattle bulls, using ultrasonographic examination and measurements of external genitalia by caliper. Six Friesian bulls were examined periodically from 3 to 24 months of age with 3-month interval. Scrotum circumference (SC) and length were measured by tape. Testicular length, width and depth were measured by caliper. Scrotal contents including testes and epididymis, and the pelvic genitalia including bulbourethral gland (BUG), prostate and seminal glands (SG) were examined using transrectal ultrasonography. Scrotal circumference, length and the three dimensions of the testes showed significant increase with the advancement of age. Significant correlation was present between SC and testes breadth. At the same time, testis breadth as estimated by sonar showed positive correlation with that estimated by caliper. A positive correlation was also found between testicular breadth with each of the BUG and SG. Finally, it was concluded that ultrasonography gave appreciable benefits in studying the developmental changes of the testes and accessory glands of growing bulls. The obtained data could provide a useful tool for predicting bull puberty and fertility.

Aging↗
PubMedDate not supplied

Ambiguous genitalia: etiology, treatment, and nursing implications.

The infant presenting with ambiguous genitalia is a challenge to both the medical and nursing staff. The birth of any infant with ambiguous genitalia is considered a physical and psychologic emergency requiring prompt recognition and treatment for a positive outcome. A review of the etiology, presentation, diagnosis, and treatment of ambiguous genitalia is presented. The important aspects of family care also are discussed.

Disorders of Sex Development↗
PubMed1994

Acantholytic dermatosis localized to genitalia and crural areas of male patients: a report of three cases.

A series of 3 cases of acantholytic dermatosis localized to the male genitalia and perineal area with distinct clinical and histological features is presented. These patients did not have a family history of similar disorders and had no evidence of rash elsewhere. Clinically, the eruption was characterized by multiple discrete papules or macerated patches involving the genitalia and the perineum. Histologically, the acantholytic dermatosis had features that resembled both Hailey-Hailey disease and Darier's disease. Similar clinical and histological findings have been reported in females. To the best of our knowledge, this is the first report of these lesions described confined to the genital and perineal areas in male patients. We agree with other authors that this condition may represent a distinct acantholytic eruption in the perineal area that should be distinguished from other generalized blistering acantholytic dyskeratotic disorders that may also involve the genitalia.

Acantholysis↗
PubMedDate not supplied

Necrotizing fasciitis of the external genitalia following traditional circumcision.

BACKGROUND: Necrotizing fasciitis of the external genitalia is not common in children, and is particularly unusual after circumcision. METHOD: A case report of necrotizing fasciitis of the external genitalia in a one month old boy with discussion of relevant literature. RESULT: A one-month-old boy presented with necrotizing fasciitis of the external genitalia following traditional circumcision. Treatment consisted of early administration of intravenous broad-spectrum antibiotics and debridement. Skin grafting was not necessary as the wound contracted and healed by secondary intention with minimal scarring. CONCLUSION: Early institution of appropriate antibiotics and debridement should prevent morbidity and mortality from this uncommon condition.

Circumcision, Male↗
PubMed2005

Localized epidermolytic hyperkeratosis of the female genitalia: a case report and review of an underappreciated disorder of women.

Epidermolytic hyperkeratosis (EHK) is a distinct pathologic entity that may present as a generalized congenital disorder. A localized form occurring only upon the female genitalia may not be well appreciated by clinicians dealing with women. EHK of the female genitalia is a rare diagnosis, with just 6 cases reported within the indexed literature. Clinically, it may resemble condyloma, although involvement of human papillomavirus has never been demonstrated. Providers unfamiliar with this entity may be further confused by reports of the histopathologic features. Herein, we describe a case and review the literature with respect to EHK of the female genitalia. Familiarity with this condition is desirable, as confusion with condyloma is likely, yet the prognosis is decidedly different.

Diagnosis, Differential↗
PubMed1990

[Sex determination in ambiguous genitalia].

Choice of sex in children with ambiguous genitalia requires morphological evaluation of external and internal genitalia together with prevision of the kind of pubertal and psychosexual development. Female features in female pseudohermaphroditism, ambiguous in true hermaphroditism and mixed gonadal dysgenesis, male, ambiguous or female in male pseudohermaphroditism, are usually awaited. Increased risk of malignancy in poorly differentiated male gonads should be considered. In neonates diagnostic procedures should be urgently undertaken in order to choose correct sex as soon as possible. Parents must be convinced from the beginning in order to remove any possible doubt. There should be no change in sex, as a rule, after the second year of life, unless a strong psychosexuality arises in definite opposition to the sex so far assumed. In our experience, in 4 out of 23 cases with ambiguous genitalia, neonatal choice of female sex was refused by parents.

Disorders of Sex Development↗
PubMed1979

Bowenoid papulosis of the genitalia.

We report 34 cases of bowenoid papulosis of the genitalia. In each case, the patient had numerous reddish brown or violaceous papular lesions, some distinctly verrucoid, situated on the genitalia. Although clinically the lesions invariably appeared benign, histologic examination of specimens from the genital lesions in each patient showed changes of squamous cell carcinoma in situ. Many of the patients gave a history of preceding viral lesions on the genitalia. Therapy in all cases was conservative but thoroughly ablative. We view bowenoid papulosis as a new entity whose biologic behavior if untreated is as yet unknown.

Adolescent↗
PubMed2000

Surgical conversion of genitalia in transsexual patients.

OBJECTIVE: To describe the techniques and outcome of genital and urethral reconstructive surgery during gender conversion as part of the treatment of transsexuals. PATIENTS AND METHODS: From 1992 to 1999, 82 patients were surgically converted after previous sexual and hormonal therapy. Using the male genital tissue to create new female genitalia, and vice versa, 30 male and 52 female transsexuals were converted. For male-to-female transsexuals, the technique of penile skin inversion was used 29 times and sigmoidocolpoplasty five times (in one patient primarily and in four patients to correct inadequate neovaginal size after penile skin inversion). In female-to-male transsexuals, 28 meta-idoioplasties and seven neophalloplasties were performed using the groin skin-flap technique, with 42 breast reductions also included as a part of the therapy. RESULTS: Surgical gender reassignment of the male transsexuals resulted in replicas of female genitalia which enabled coitus with orgasm. Depending on the technique used in the reverse conversion, the patient maintained the ability to attain orgasm, and in many cases had a satisfactory appearance of the neopenis, with the potential to void while standing. CONCLUSIONS: The morphological proportions of each patient vary, and the different shapes and sizes of the tissues can be used for plastic operations. Thus the modelling of each individual genital in transsexuals can be considered 'original'.

Adolescent↗