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PubMed2005

The morphological and histological characters of the male external genitalia of the house musk shrew, Suncus murinus.

External genitalia are the reproductive organs necessary for efficient copulation and internal fertilization in various mammalian species. Their morphogeneses display significant morphological and developmental differences among species. The house musk shrew, Suncus murinus (hereafter described as suncus) is a species of the order Insectivora, which has been considered as primitive and one of the earliest eutheria phylogenetically. Comparative anatomical analyses of phylogenetically different mammals will contribute to the better understanding of morphological diversity of external genitalia. This study performed various anatomical and histological analyses concerning the organization of the external genitalia of male suncus. It was shown that the external genitalia of suncus possessed a muscular structure, which we proposed as musculus ischiocavernosus dorsalis of suncus. The musculus ischiocavernosus dorsalis is originated from the inner surface of the tuber ischiadicum and was allocated adjacent to the corpus cavernosum penis. In addition, a pair of alpha-smooth muscle actin positive muscles was located bilaterally to the urethra. This unique morphology of the external genitalia of suncus males may provide a unique model system to investigate genital morphogenesis.

Anatomy, Comparative↗
PubMed1984

Endocrinological problems in malformation of the male genitalia.

There are two groups of congenital defects of the male genitalia: defects of organogenesis (e. g., aplasia of the external genitalia) and malformations due to defective hormonal influences on these organs. The pathophysiological mechanisms of the functional malformations can be a defect of androgen biosynthesis in the gonads, defects of conversion of precursor hormones into the biologically active compound, and defects at the receptor site with a faulty hormonal utilisation. All these defects in the production of a biologically active substance can be present and operating very early in life, i. e., in the embryonal or foetal period. Problems can arise from the mother and particularly the placenta, or from the child (pituitary). The production of an antimüllerian hormone in Sertoli cells has been recently reported as an additional important mechanism. These hormonal defects influence the development of the male genitourinary tract system. Testosterone biosynthesis has several enzymatic steps: The synthesis of androgens starts early in the embryonal period, with the final transformation of the indifferent organ into the differentiated external male genitalia occurring under the influence of the foetal testosterone. Targets for these hormonal malfunctions are, besides the urogenital system, an enzyme (5-alpha-hydroxylase) and cytoplasmic and nuclear receptor sites on the skin of the external genital region. One of the clinical manifestations of such a hormonal malfunction is a defective virilisation of the external male genitals, with several types of hypospadias. Complete and partial defects of testosterone biosynthesis are known. Extensive laboratory investigations disclose the specific defect. Besides hypospadias, similar malformations occur in the form of ambiguous external genitalia if testosterone cannot metabolize into dihydrotestosterone in the target cell. In earlier descriptions this congenital genitourinary defect was called pseudovaginal perineoscrotal hypospadias. Today, the specific defect is identified as a 5-alpha-reductase deficiency. The diagnosis is established by a skin biopsy of the genital area. Ambiguous genitalia of variable expression are present if the receptor sites at the target cells are defective. The clinical presentation is known as testicular feminization or hereditary male pseudohermaphroditism. Incomplete partial expression of this disorder is known. The diagnosis is made clinically, and diagnosis is proven by investigation of hormone receptor sites in the target cells in the skin of the genital region.(ABSTRACT TRUNCATED AT 400 WORDS)

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed2000

How accurate is the prenatal diagnosis of abnormal genitalia?

PURPOSE: The prenatal diagnosis of abnormal genitalia may have a major impact on prenatal counseling and postnatal outcome. We studied the accuracy and clinical implications of the prenatal diagnosis of abnormal genitalia. MATERIALS AND METHODS: Between 1991 and 1999 the prenatal and/or postnatal diagnosis of abnormal genitalia in 53 cases was made at our institution. All cases were prenatally assessed at our Obstetrics and Fetal Medicine Department. Outcome was confirmed postnatally or by a fetopathologist in the case of pregnancy termination. RESULTS: A genital anomaly was prenatally diagnosed in 43 cases and was accurate in 34, while in 9 cases anomalies were absent at birth. In 10 cases ambiguous genitalia were not detected prenatally. The primary anomalies suspected were male pseudohermaphroditism in 19 cases and female pseudohermaphroditism in 12, including 2 cases of congenital adrenal hyperplasia. Male pseudohermaphroditism was detected prenatally in 17 cases and diagnosis was confirmed at birth. Female pseudohermaphroditism was detected prenatally in 12 cases and only 5 were confirmed and the anomaly was discovered at birth in 6. The prognosis was highly altered when many malformations or aneuploidy was associated with ambiguous genitalia. Of the 15 patients with many malformations only 3 survived, and pregnancy was terminated in 3 of 4 cases of aneuploidy. CONCLUSIONS: When pseudohermaphroditism was detected in a male fetus by an experienced ultrasonographer at a tertiary center the prenatal diagnosis was accurate in 100% of cases. The prenatal diagnosis was less accurate (46% correct) in a female fetus.

Disorders of Sex Development↗
PubMed1992

The challenges of ambiguous genitalia.

In this paper, we assessed 71 patients between January 1985 and December 1990. Patients with ambiguous genitalia who were seen in the out-patient clinics of both the Paediatric and Urology Departments in the Harare Group of Hospitals. The majority of patients were seen by both the paediatricians and the urologists as children with anomalous genitalia, and a good number were referred to the Urological out-patients as cases of severe perineal, penoscrotal hypospadias, or cryptorchidism. Generally, there were three categories of patients who were seen. The first group were patients referred with severe hypospadias, perineal or penoscrotal and who only, after chromosomal studies, were then categorised into the ambiguous genitalia group. These patients were sent for chromosomal studies because of the concomitant cryptorchidism or, as they were suspected of having ambiguous genitalia because of the well developed labial folds without palpable testes. The second group of patients were patients seen at birth with incongruities which typify ambiguous genitalia. The third group was those who attended the urology clinics with a wish of having surgery performed to render their "phallic organ" long or good enough to help achieve rigidity for sexual intercourse. In the 71 patients seen, the classification had been made and surgery performed on a great majority of them at an early stage, to avoid later catastrophes and the possibility of the development of gonadoblastoma.

Chromosome Mapping↗
PubMed1998

Traumatic injuries of the female external genitalia and their association with urological injuries.

PURPOSE: To date trauma to the female external genitalia has been incompletely characterized. At our institution a large number of such patients have been identified and many had associated urological injuries. We characterize these injuries and their association with urological injuries. MATERIALS AND METHODS: We reviewed the charts of all female patients presenting with trauma to the genitalia unrelated to parturition between 1991 and 1996. Type and mechanism of injury, associated injuries and blood transfusion requirements were noted. Vaginal injuries were classified as complex (greater than 3 cm., multiple or involving deeper structures) or simple (all others). RESULTS: We identified 20 women a mean 20.7 years old with traumatic injuries to the genitalia, including motor vehicle accidents in 6, injury from consensual intercourse in 5, sexual assault in 4 and other penetrating injuries in 5. There were 15 patients with vaginal injuries (complex in 8 and simple in 7) and vulvar injuries in 5. Six of the 20 women (30%) had associated urological injuries (urethra in 1, bladder in 4, ureter in 1 and kidney in 3) [corrected], including 3 associated with blunt trauma (all complex vaginal injuries) and 3 associated with penetrating trauma (simple vaginal or vulvar injuries). CONCLUSIONS: Traumatic injury to the female genitalia unrelated to parturition is more common than previously reported. Of the women with such injuries 30% have coexisting urological injuries. Thus, it is important to assess completely all women who present with external genitalia trauma for possible coexisting urological injury.

Adolescent↗
PubMed2004

Molecular and genetic regulation of testis descent and external genitalia development.

Testicular descent as a prerequisite for the production of mature spermatozoa and normal external genitalia morphogenesis, and therefore facilitating copulation and internal fertilization, are essential developmental steps in reproduction of vertebrate species. Cryptorchidism, the failure of testis descent, and feminization of external genitalia in the male, usually in the form of hypospadias, in which the opening of the urethra occurs along the ventral aspect of the penis, are the most frequent pediatric complications. Thus, elucidating the molecular mechanisms involved in the regulation of testis descent and the formation of external genitalia merits a special focus. Natural and transgenic rodent models have demonstrated both morphogenic processes to be under the control of a plethora of genetic factors with complex time-, space-, and dose-restricted expression pattern. The review elucidates the molecular mechanisms involved in the regulation of testis descent and the formation of external genitalia and, wherever possible, assesses the differences between these rodent animal models and other mammalian species, including human.

Androgens↗
PubMed1987

Transposition of the external genitalia associated with caudal regression.

Complete transposition of the external genitalia is a rare abnormality that occasionally is associated with the caudal regression syndrome. We report the pathological findings of this abnormality in a male stillborn and a female newborn. The male stillborn had extensive urogenital anomalies as well as complete transposition of the external genitalia and agenesis of the lumbar spine. The female patient had renal tract anomalies and ambiguous external genitalia with a phallic structure in the gluteal cleft. In surviving infants with transposition of the external genitalia immediate evaluation of the urogenital system is necessary to identify the full extent of any associated internal defects.

Abnormalities, Multiple↗
PubMed2006

A time-sequence functional analysis of mating behaviour and genital coupling in Drosophila: role of cryptic female choice and male sex-drive in the evolution of male genitalia.

Male genitalia in Drosophila exemplify strikingly rapid and divergent evolution, whereas female genitalia are relatively invariable. Whereas precopulatory and post-copulatory sexual selection has been invoked to explain this trend, the functional significance of genital structures during copulation remains obscure. We used time-sequence analysis to study the functional significance of external genitalic structures during the course of copulation, between D. melanogaster and D. simulans. This functional analysis has provided new information that reveals the importance of male-driven copulatory mechanics and strategies in the rapid diversification of genitalia. The posterior process, which is a recently evolved sexual character and present only in males of the melanogaster clade, plays a crucial role in mounting as well as in genital coupling. Whereas there is ample evidence for precopulatory and/or post-copulatory female choice, we show here that during copulation there is little or no physical female choice, consequently, males determine copulation duration. We also found subtle differences in copulatory mechanics between very closely related species. We propose that variation in male usage of novel genitalic structures and shifts in copulatory behaviour have played an important role in the diversification of genitalia in species of the Drosophila subgroup.

Animals↗
PubMed1993

Sexually dimorphic expression of estrogen receptors, but not of androgen receptors in human fetal external genitalia.

Using immunohistochemistry, we investigated the distribution of androgen receptors (AR) and estrogen receptors (ER) in the external genitalia of human male and female fetuses at 18-22 weeks gestation. In the male, the corpus cavernosum, and the stroma of the inner prepuce, scrotum, and periphery of the glans were AR rich. The corpus spongiosum, a well defined structure that surrounds the penile urethra in the neonate, was not yet developed at this fetal age, but the periurethral mesenchyme (presumably the primordium of the corpus spongiosum) was intensely AR positive. In contrast, the epithelium of the preputial skin, penile shaft skin, and scrotal skin were AR negative. The urethral plate in the distal glans was nonpatent and was filled with a meshwork of AR-negative epithelial cells. Canalization of the AR-negative urethral plate was observed to begin where it joined the patent distal penile urethra, which was AR positive. Male external genitalia lacked ER, ruling out a direct influence of maternal estrogen on male genital development. Interestingly, female external genital structures contained AR, and the distribution of AR and staining intensity were strikingly similar to that in the male. The distribution of AR in the female provides a mechanism to explain how female external genitalia become masculinized if exposed to elevated androgen levels in the first trimester. Moreover, it implies that in the male, these AR indeed mediate androgen-dependent male external genital development. Female fetal external genitalia were also intensely ER positive in the stroma of the labia minora and in the periphery of the glans and inner prepuce. The presence of ER suggests that maternal estrogen may play a direct role in female external genital development, challenging the widely held view that female external genital development is passive because it can occur in the absence of fetal gonadal hormones.

Epithelium↗
PubMed2002

Ambiguous genitalia: an overview of 22 years experience and the diagnostic approach in the Pediatric Department, Siriraj Hospital.

The newborn with abnormal genital development presents a difficult diagnostic and treatment challenge for the pediatrician providing care. It is important that a definitive diagnosis be determined as quickly as possible so that the appropriate treatment plan can be established to minimize medical, psychological and social complications. The purpose of this study was to provide an extensive review of the clinical characteristics of a patient cohort with ambiguous genitalia, from 22 years' experience in the Division of Endocrinology and Metabolism, Department of Pediatrics, Siriraj Hospital, and to classify them into diagnostic categories. Moreover, a cascade of diagnostic tools in approaching sexual ambiguity in the authors' institution, starting with history and physical examination and leading to further radiographic and laboratory investigations is demonstrated and can be adopted as a guideline for the clinical management of these disorders. From 1979 to 2001, care was provided to a total of 109 patients with ambiguous genitalia, of whom 104 patients were reviewed. Among these individuals, 52 patients (50.0%) belonged to the diagnosis of female pseudohermaphroditism, 5 patients (4.8%) were in the true hermaphroditism group and the remaining 47 patients (45.2%) were in the male pseudohermaphroditism group. All female pseudohermaphrodites carried a diagnosis of congenital adrenal hyperplasia (CAH) and were reared as girls. 21 hydroxylase deficiency CAH accounted for all except one (98%) in this group. Among the 47 male pseudohermaphrodites, 9 (19.1%) had dysgenetic male pseudohermaphroditism, 7 (14.9%) had either testosterone biosynthetic defects or hCG unresponsiveness, 22 (46.8%) had either androgen insensitivity syndrome or 5 alpha-reductase deficiency, 4 (8.5%) had ambiguous genitalia in a 46,XY male associated with multiple anomalies and 5 (10.6%) had an unidentifiable cause. Sex reassignment occurred, not uncommonly, in 4 cases of female pseudohermaphrodites (7.7%) and at least 2 cases (3.9%) in the combined group of male pseudohermaphrodites and true hermaphrodites. The scope of the ambiguous genitalia problem is definitely not minor. An inappropriate approach to this problem poses an undue risk to the integrity of the physical and psychosexual health in the future for these children.

Adrenal Hyperplasia, Congenital↗
PubMed2006

Molecular genetic cascades for external genitalia formation: an emerging organogenesis program.

External genitalia are anatomical structures located at the posterior embryonic region as part of several urogenital/reproductive organs. The embryonic anlage of the external genitalia, the genital tubercle (GT) develops as a bud-shaped structure with an initial urethral plate and later urethra. Embryonic external genitalia are considered to be one of the appendages. Recent experiments suggest that essential regulatory genes possess similar functions for the outgrowth regulation of the GT and limb appendages. The transient embryonic epithelia located in the distal GT are called the distal urethral epithelium (DUE) regulating, at least in part, the (distal) GT development. This review covers the available data about early patterning of GT and discusses the molecular developmental similarities and points of divergence between the different appendages. Development of the male and female external genitalia is also reviewed.

Animals↗
PubMedDate not supplied

Normal growth and development of fetal external genitalia demonstrated by sonography.

PURPOSE: Our aim in this retrospective sonographic study was to describe the normal growth and development of fetal external genitalia. METHODS: We reviewed the sonograms of anatomically normally fetuses, obtained over a 5-year period, and measured transverse scrotal diameter or penile length in male fetuses and bilabial diameter in female fetuses. Transverse scrotal diameter was measured from the midpoint of the lateral scrotal wall to the midpoint of the opposite lateral wall; penile length, from the base of the shaft to the tip; and bilabial diameter, from the midpoint of the lateral labial margin to the midpoint of the opposite lateral labial margin. RESULTS: We examined sonograms from 1,182 fetuses and measured transverse scrotal diameter in 304 and penile length in 494 male fetuses and bilabial diameter in 384 female fetuses. The fetuses ranged from 14 to 41 weeks' menstrual age. Transverse scrotal diameter, penile length, and bilabial measurements were highly correlated with menstrual age (r = 0.941, r = 0.860, and r = 0.898, respectively). We found that growth of fetal external genitalia is similar to that for other parameters of fetal growth, such as biparietal diameter and femur length. CONCLUSIONS: The results of this study may be helpful in understanding the natural course of the growth and development of fetal external genitalia. In addition, the data we gathered may be useful in combination with other biometric data for estimating fetal age and may help in detecting abnormalities in the fetal external genitalia.

Adult↗
PubMed1990

Genitalia in human figure drawings: childrearing practices and child sexual abuse.

To replicate and explore the associations of drawing genitalia on a human figure, child-rearing practices, and a history of alleged sexual abuse, we designed a cross-sectional study of 109 alleged child sexual abuse victims, ages 3 through 8 years, and a group of 109 comparison children matched for age, sex, race, and socioeconomic status but with no history of abuse. A standardized format was used to collect drawings, administer the Peabody Picture Vocabulary Test, and gather background data on medical, developmental, and child-rearing issues. Seven alleged sexual abuse victims and one comparison child spontaneously drew genitalia (p = 0.02, one-tailed Fisher Exact Test, estimated relative risk 7.96). No differences in drawing maturity (Draw-A-Man score) were identified, although Peabody Picture Vocabulary Test scores were higher in comparison children (82.1 vs. 91.0, p less than 0.01). Neither drawing genitalia nor history of alleged sexual abuse were significantly associated with histories of medical problems, enuresis, encopresis, urinary tract infection, or child-rearing practices related to sleeping, nudity, bathing, sexual abuse education, or exposure to sexually explicit materials. The similar patterns of child-rearing practices in both samples should make professionals cautious in attributing allegations of abuse to specific child-rearing practices. This study confirms our previous report that the presence of genitalia spontaneously drawn on a child's drawing of a human figure is associated with alleged sexual abuse.

Art↗
PubMed2003

Development of the genitalia in Drosophila melanogaster.

The imaginal discs of Drosophila melanogaster are an excellent material with which to analyze how signaling pathways and Hox genes control growth and pattern formation. The study of one of these discs, the genital disc, offers, in addition, the possibility of integrating the sex determination pathway into this analysis. This disc, whose growth and shape are sexually dimorphic, gives rise to the genitalia and analia, the more posterior structures of the fruit fly. Male genitalia, which develop from the ninth abdominal segment, and female genitalia, which develop mostly from the eighth one, display a characteristic array of structures. We will review here some recent findings about the development of these organs. As in other discs, different signaling pathways establish the positional information in the genital primordia. The Hox and sex determination genes modify these signaling routes at different levels to specify the particular growth and differentiation of male and female genitalia.

Animals↗
PubMed1995

Accuracy of ultrasonic detection of the uterus in normal newborn infants: implications for infants with ambiguous genitalia.

Every year approximately one in 5000 babies is born with ambiguous genitalia, a condition that requires immediate sex assignment if possible. We investigated whether transabdominal ultrasonography with the use of a linear array high-resolution 7.5-MHz transducer would enhance the accuracy of detecting the uterus in the newborn. One hundred mothers who delivered normal, term infants (> 36 weeks and > 2500 g) gave their informed consent for the investigation. Each infant was placed in an unmarked bassinet, external genitalia were covered, and ultrasound examinations were performed by the same examiner (R.S.) who was blinded to the sex of the infant. The neonatal uterus was identified in 47 of 50 female infants (94% sensitivity) and the absence of a uterus was correctly predicted in 49 of 50 male infants (specificity 98%). The average length of the neonatal uteri 1 day after birth was 3.2 +/- 0.5 cm and the total volume was 3.5 +/- 0.9 cm3. An endometrial strip could be identified in 98% of neonatal uteri. We conclude that the use of the high-resolution 7.5-MHz transducer available in commercial ultrasound equipment is an accurate method for the detection of the neonatal uterus. Infants born with ambiguous genitalia who have a uterus will almost always be assigned the female sex. Infants with ambiguous genitalia but without a uterus will have male pseudohermaphroditism.

Cervix Uteri↗
PubMed2003

Developmental stability and adaptive variability of male genitalia in sexually dimorphic beetles.

Animal genitalia often show distinct developmental and evolutionary relationships with other parts of the body. Morphological observations of 29 sexually dimorphic and monomorphic beetle species in 16 genera of families Scarabaeidae and Lucanidae, Coleoptera, in 53 locations revealed that male genitalia size was consistently and distinctly less variable than that of other body parts within the same population, while it differentiated more readily among different populations than other body parts. The most noticeable genitalia size differentiation occurred in populations that coexisted with morphologically and ecologically similar congeneric species. Such differentiation may indicate selection for reproductive isolation. These characteristics of genitalia morphology may have been instrumental in generating the speciation pattern seen in most beetles.

Animals↗
PubMed2000

Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males.

The androgen receptor (AR) is essential to the normal development of the male internal and external genitalia. Consequently, impairment of AR function can result in undermasculinized genitalia that vary from a completely female appearance to isolated hypospadias. Since in vitro studies demonstrate that AR function is reduced by expansion of the polyglutamine tract within the receptor [AR(Gln)(n)]; this study examined whether longer AR(Gln)(n) repeats are associated with moderate to severe undermasculinization. The average AR(Gln)(n) length of the undermasculinized group (n = 78, median 25, interquartile range 23-26) was significantly greater than that of the control population (n = 850, median 23, inter-quartile range 22-26, P = 0.002). The odds ratio of having >/=23 repeats (as opposed to </=22 repeats) in the undermasculinized group was 2.51 (95% confidence interval 1.41-4.48). The estimated increase in the OR for each additional repeat was 9.07%. Hormonal and AR binding data were used to select subgroups of patients that had a reduced likelihood of a sex steroid biosynthetic defect or an AR abnormality. A clear trend was demonstrated in which the mean AR(Gln)(n) length and the odds ratio increased with the rigour of the subgroup selection criteria. Undermasculinization of the male genitalia is a rare example of a non-neurodegenerative, congenital disorder that is associated with triplet repeat allele size. Furthermore, the association of both undermasculinized genitalia and isolated male factor infertility with AR(Gln)(n) length provides additional evidence that they may represent different degrees of severity of the same disease process.

Genitalia, Male↗
PubMed1990

Morphogenetic effects of hydroprene on genitalia of the oriental cockroach (Dictyoptera: Blattidae).

Hydroprene had a considerable effect on the morphogenesis of external genitalia of the oriental cockroach, Blatta orientalis L. Exposure of nymphs to hydroprene resulted in abnormal adultoids with structural and positional distortions, and reduced or absent cuticular sclerotizations of the external genitalia. Late nymphal instars were significantly more sensitive to hydroprene than were early instars. In males, the epithelial cells of wings, serrata of the right phallomere, titillator and other lobes of the left phallomere were sensitive to hydroprene. The left phallomere was often prolapsed, distorted, and reduced in sclerotization. The right phallomere, particularly the serrata, was extremely malformed. In severe cases, phallomeres were entirely distorted or fused to each other. In females, the overall structure of the ovipositor appeared flaccid, less sclerotized, and misshapen. The first and second pairs of valvulae were often misshapen and reduced in sclerotization and length, or even fused with the third valvulae. This study provides morphological evidence that B. orientalis with malformed genitalia after treatment with hydroprene would be unsuccessful in copulation and fertilization. A high correlation between wrinkled wings and malformed male genitalia can be an important criterion to evaluate the effects of hydroprene on this species.

Animals↗