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At least 19 recordsLinked to original sources
PubMedDate not supplied

Starting from fins: parallelism in the evolution of limbs and genitalia: the fin-to-genitalia transition.

Organizers of the symposium Starting from Fins: Parallelism in the Evolution of Limbs and Genitalia intended it 1) to begin debates and discussions about parallelism, serial homology and transitions in development, as well as evolution of gene function and theories of origins and 2) to examine closely the potential significance of serial homology in understanding the evolution of morphology. This issue of Evolution and Development focuses on unpaired fin to genitalia transitions; the July-August issue will focus on paired fins to limbs, revisit the issues raised in the symposium, and point to future directions. Minelli's opening presentation introduced the central theme of the symposium by suggesting that body appendages such as arthropod and vertebrate limbs, chordate tails and external genitalia are evolutionarily divergent duplicates (paramorphs) of the main body axis. Suzuki's and Podlasek's presentations focused on the development of mammalian genitalia. Suzuki presented Suzuki et al investigations of the role of fibroblast growth factor (Fgf) and Sonic hedgehog (Shh) as signaling molecules during murine external genitalia formation, and Podlasek presented Podlasek et al investigations to elucidate a rudimentary pathway of essential developmental genes and transcriptional regulators such as Hox genes, Sonic hedgehog (Shh), and Bone morphogenetic proteins 2 and 4 (BMP-2; BMP-4), found in the limb. Discussions and questions emerging from the symposium point to the need to recognize that claims of phylogenetic cause must be based on something more than similarities; research must focus on the extent to which comparisons can be taken as well as on the evolutionary significance of similarities.

Animals↗
PubMed1983

[Studies on the etiology of infectious disease of female internal genitalia - bacterial flora in the female genitalia and surrounding tissues].

The present studies were carried out to clarify the indigenous bacterial flora in the female internal genitalia and surrounding tissues and the pathogenesis of parametritis. Twenty nine patients with uterine tumors which consisted of sixteen carcinomas and thirteen benign tumors underwent abdominal total hysterectomies. Each tissue aseptically collected from the uterus and adnexae was cultured for 48 hours under aerobic or anaerobic conditions and the bacterial species were isolated and identified. In benign uterine tumors, anaerobic bacteria were isolated in six patients and aerobic or anaerobic bacteria were identified In the endometrium, fallopian tube and parametrium of five of the patients. In a group of carcinoma in situ (stage 0), many bacteria were isolated in two patients after conization. In the uterine carcinomas, as the stage advanced, the rate of bacterial isolation from parametrium and lymph node became higher. The rate of anaerobic bacterial isolation, except for one from the vagina, was nine out of sixteen patients with carcinomas but three out of thirteen patients with benign tumors. The results revealed that the bacterial flora in the vagina spread to the internal genital organ and surrounding tissues via the ascending or cervical lymphatic pathway and remained there as nonpathologically indigenous bacterial flora. These results suggest that these indigenous bacterial flora in the internal genitalia and the surrounding tissue may cause an opportunistic infection.

Adult↗
PubMedDate not supplied

[Causes of ambiguous external genitalia in neonates].

INTRODUCTION: The classification of disorders such as ambiguous genitalia in newborns is difficult because similar or identical phenotypes could have several different aetiologies. In most cases it was impossible to correlate the aetiology of the disorder and the appearance of the external genitalia [1-3]. A newborn with ambiguous genitalia needs prompt evaluation that will permit gender assignment and detection of life-threatening conditions (salt-losing crisis due to congenital adrenal hyperplasia or Wilms' tumour). We studied the causes and characteristics of ambiguous genitalia in newborn infants over the period from 1990 to 1999. PATIENTS AND METHODS: The following genital phenotypes are considered as ambiguous: 1. Hypospadias with no palpable gonads; 2. Hypospadias with micropenis and no palpable gonads or one palpable gonad; 3. Newborn with female external genitalia and a gonadal mass in labia or labial fusion and/or clitoral enlargement [1, 4]. The diagnostic evaluation of newborns with ambiguous genitalia consisted of history and physical examination, determination of serum electrolytes, plasma 17-hydroxyprogesterone (17-OHP), chromosome analysis on cultured lymphocytes, sonogram of the abdomen in connection with a genitogram; and whenever it was necessary, basal plasma concentrations of testosterone and, after the stimulation with human chorionic gonadotropin (hCG), laparotomy for definitive determination of gonadal histology. All disorders with ambiguous genitalia have been classified in four groups: [6]: 1. Female pseudohermaphroditism (FPH); 2. Male pseudoherma phroditism (MPH); 3. True hermaphroditism (TH); 4. Asymmetrical gonadal dysgenesis (ASGD). RESULTS: The causes of sexual differentiation disorders in a group of 38 newborns with ambiguous genitalia are presented in Table 1. Main criteria for the diagnosis of FPH were normal female karyotype 46, XX, masculinization of external genitalia and no palpable gonads. Genitography revealed urogenital sinus and vagina, and ultrasound examination the uterus. During initial examination seven of 15 newborns with congenital adrenal hyperplasia (CAH) (Table 2) due to 21-hydroxylase (P450c21) deficiency (21-OHD) had clinical or laboratory signs of adrenal crisis. Two children had a simple virilizing form of 21-OHD. The female gender was chosen for these children. In other three patients with FPH isolated clitoral hyperplasia or labial fusion was the main reason for the studies. The common characteristics of newborns with MPH were as follows: normal male karyotype 46,XY with normally developed or dysgenetic testes, and/or good response to hCG stimulation. The complete androgen insensitivity (testicular feminization) was detected in two children (Table 3) with female external genitalia and palpable gonads in the labial folds, and female gender was chosen. The Denys-Drash syndrome was detected in one newborn with ambiguous genitalia, no palpable gonads, and normal response to hCG, and ultrasound findings of multiple bilateral renal tumours were identified as Wilms' tumour. In other newborns with MPH incomplete masculinization consisted of hypospadias, mostly of perineoscrotal type and of micropenis (penile size less than 2 cm) and/or bilateral or unilateral cryptorchidism (Table 3). In all children male sex was chosen. Asymmetrical gonadal dysgenesis was detected in two newborn infants. Both children had 46,XY/46,XX karyotype, testes on one side of the abdomen, and streak gonad on the other, developed vagina, uterus and unilateral Fallopian tube, and were raised as females. True hermaphroditism was established in one newborn with 46,XX karyotype, with a testis on one side of the abdomen and an ovotestis on the other side. The parents decided for male gender. The aetiology of ambiguous genitalia was not established in five children; in two children with 46,XY and one with 46,XX karyotype (with palpable gonads) the diagnostic study was not completed. CONCLUSIONS: The most common cause of ambiguous genitalia in our newborn patients was CAH due to 21-OH deficiency [2, 4, 6, 7]; 87 percent of patients had salt wasting form of the disease. In the majority of patients the appearance of the external genitalia made possible the detection of the disease immediately after the birth. So, the relative high incidence of adrenal crisis in our patients with CAH (38%) seems unreasonable. The decision for gender assignment was possible after the appropriate study of the nature of the disorder. The causes of MPH are numerous and heterogeneous [1, 3, 8]. With the exception of two patients with complete form of androgen insensitivity, in all newborns with MPH the male gender predominated. The appearance of external genitalia with severe perineoscrotal hypospadia and/or micropenis suggested the possibility of incomplete androgen resistance. If a male assignment is being considered, the response of the phallic size to treatment with testosterone was recommended. If penile size did not reach the 2.5 cm range or above, a male sex assignment was not advisable [1]. It is important for the paediatric surgeon to be involved in the diagnostic evaluation of these infants to plan the timing and techniques of the surgical reconstruction [6]. The decision to raise a patient with sex chromosome mosaicism, true hermaphroditism, or mixed gonadal dysgenesis as either a male or a female was based on the appearance of the external genitalia and possible fertility [1, 9]. The parental decision of male sex in our patients with true hermaphroditism could not be considered as optimal.

Adrenal Hyperplasia, Congenital↗
PubMed1982

Examination of genitalia in children: 'the remaining taboo'.

Trained student observers rated 123 physical examinations by pediatric house staff during health care maintenance visits to assess the frequency of examinations done on male and female genitalia compared with examination of ears, heart, and abdomen. Sixty-five observations were made of 21 male house staff and 58 observations of 18 female house staff. One to five examinations per physician were observed. Whereas physicians examined the ears, heart, and abdomen of pediatric patients greater than or equal to 97% of the time regardless of the sex or age of the child, female genitalia were examined 39% of the time and male genitalia 84% of the time. Female genitalia were examined approximately half as frequently as male genitalia at all ages with a trend to less frequent genital examinations on older children. Both male and female physicians examined female genitalia less frequently than male genitalia. It is concluded that increased emphasis is needed in house staff training programs on the examination of genitalia.

Child↗
PubMed1999

Hypoplastic external genitalia in association with X;autosome chromosome translocation.

STUDY OBJECTIVE: To learn the relationship between X;autosome chromosome translocation and hypoplastic external genitalia. BACKGROUND: An X;autosome translocation usually presents with phenotypic features similar to Turner syndrome. PARTICIPANTS: We present three female siblings and their mother with X;autosome translocation and hypoplastic external genitalia. METHODS: Case presentation. RESULTS: Three female siblings, ages 14, 16, and 18 years, presented for routine checkup. All had been seen in the past for short stature, learning disability, and other features similar to those seen in Turner syndrome. At time of presentation, all three had primary amenorrhea. On genital exam, each was found to have hypoplastic external genitalia with absent clitoris and labia minora. Pelvic ultrasound in all subjects showed normal but prepubertal uterus and ovaries. Two subjects have unbalanced translocations with karyotype 46,X,der(9)t(9;X)(q11.2;q22.3). This abnormal chromosome complement results in the loss of the short arm of the X chromosome and the gain of an extra copy of the long arm of chromosome 9. The third subject and her mother have balanced translocations with the karyotype 46,X,t(9;X)(q11.2;q22.3). X-inactivation studies showed skewed inactivation of the normal X chromosome in the balanced translocation carriers, while the two girls with the unbalanced karyotype had skewed inactivation of the translocation product. All subjects have growth hormone deficiency. The oldest sibling was able to menstruate regularly after estrogen/progesterone therapy. The other two patients are currently receiving growth hormone and are gaining height. CONCLUSION: X;autosome translocations may be associated with hypoplastic external genitalia but normal internal genitalia. Balanced carriers can be fertile. To our knowledge, the presence of hypoplastic external genitalia in association with X;autosome translocation has not been previously reported. This should be added to the possible causes of hypoplastic external genitalia.

Adolescent↗
PubMed1987

Genitalia in children's drawings: an association with sexual abuse.

Many sexual abuse victims have been observed to draw genitalia on human figures. To test the hypothesis that sexually abused children draw genitalia on human figures more often than do nonabused children, drawings from 57 children, 3 through 7 years of age, who were referred to child protective services as alleged sexual abuse victims, were compared with drawings from an age-, sex-, race-, and socioeconomically matched group of 55 nonabused children receiving well-child care in medical settings. A standardized procedure to obtain drawings was followed by a structured interview to collect demographic, past medical, and developmental information. Five evaluators unaware of the children's backgrounds independently examined drawings for the presence or absence of five body parts; there was 94% agreement for all body parts and 93% agreement for genitalia. Eight children were excluded from the analysis because they only scribbled (n = 5) or because evaluators could not agree on whether genitalia were present in their drawings (n = 3). Ten percent (5/52) of the alleged sexual abuse victims and 2% (1/52) of the comparison children drew genitalia (P = .10, one-tailed Fisher exact test). The estimated relative risk was 5.4; that is, alleged sexual abuse victims were 5.4 times more likely to draw genitalia than were comparison children. Children known to have been sexually abused were 6.8 times more likely to draw genitalia than were comparison children (P = .07, one-tailed Fisher exact test).(ABSTRACT TRUNCATED AT 250 WORDS)

Child↗
PubMed2003

Cellular and molecular mechanisms of development of the external genitalia.

The limb and external genitalia are appendages of the body wall. Development of these structures differs fundamentally in that masculine development of the external genitalia is androgen dependent, whereas development of the limb is not. Despite this fundamental difference in developmental regulation, epithelial-mesenchymal interactions play key roles in the development of both structures, and similar regulatory molecules are utilized as mediators of morphogenetic cell-cell interactions during development of both the limb and external genitalia. Given the relatively high incidence of hypospadias, a malformation of penile development, it is appropriate and timely to review the morphological, endocrine, and molecular mechanisms of development of the genital tubercle (GT), the precursor of the penis in males and the clitoris in females. Morphological observations comparing development of the GT in humans and mouse emphasize the validity of the mouse as an animal model of GT development and validate the results of experimental studies. Accordingly, the use of mutant mice provides important insights into the roles of specific regulatory molecules in development of the external genitalia. While our current understanding of the morphological and molecular mechanisms of mammalian external genitalia development is still rudimentary, this review summarizes the current state of our knowledge and whenever possible draws from the rich experimental embryology literature on other relevant organs such as the developing limb. Future research on the hormonal and molecular mechanisms of GT development may yield strategies to prevent or reduce the incidence of hypospadias and to elucidate the molecular genetic mechanisms of GT morphogenesis, especially in relation to common organogenetic pathways utilized in other organ systems.

Animals↗
PubMed2000

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

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

Disorders of Sex Development↗
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↗
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↗