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PubMed1987

Carcinoma in situ of the vulva. Long term prognosis.

Seventy-four patients with carcinoma in situ (CIS) of the vulva were followed over a 10-year period. The mean age was 52.8 years (range 21 to 90 years). Pruritus was the most common symptom. Forty per cent of the women were asymptomatic. Twenty-three per cent had a history of carcinoma in situ of the uterine cervix. Single lesions of CIS were found in the perineal area in 22 per cent, in the labia major and minor in 23 per cent, and in the clitoris in 7 per cent. Forty-two per cent of the patients had CIS in two or more of those areas. Seven of 74 patients (10%) had previously been irradiated for pelvic malignant tumours. Three women developed invasive squamous cell carcinoma of the vulva, two of them were previously irradiated. All 74 patients were treated surgically in different ways. Out of 38 women with histologically free margins of surgery, 6 had recurrence of dysplasia or CIS.

Adult↗

PubMed2006

[Partial testicular feminization syndrome].

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

Adult↗

PubMed1975

A male pseudohermaphrodite white-tailed deer resembling an antlered doe.

A male pseudohermaphrodite white-tailed deer (Odocoileus virginianus) is described. The animal shot in Aiken County, South Carolina on November 4, 1971, was 1.5 years old and had the external appearance of an antlered doe. The 6 point antlers were in velvet, a vulva was present, and the testes were located in the body cavity. Other male reproductive organs present were epididymides, vasa deferentia and ampullae. Female reproductive organs present were cervix, vagina and clitoris.

Animals↗

PubMed1999

Bilateral ovarian stromal hyperplasia concealing a nonhilar, pure stromal-Leydig cell tumor. A case report.

BACKGROUND: Of ovarian stromal tumors containing Leydig cells, nonhilar, pure stromal-Leydig cell tumor is rare. CASE: An obese, diabetic, borderline hypertensive 41-year-old woman with a five-year history of oligomenorrhea and amenorrhea presented with complaints of masculinization. Physical examination revealed hirsutism and an enlarged clitoris. The only abnormal serum marker was elevated testosterone. At laparotomy both ovaries were enlarged and suspected to have bilateral stromal hyperthecosis. Histology revealed stromal hyperplasia along with a 1.5-cm, testosterone-producing pure stromal-Leydig cell tumor of the right ovary. CONCLUSION: Bilateral ovarian enlargement secondary to stromal hyperplasia in patients with masculinizing signs can conceal a small, unilateral pure stromal-Leydig cell tumor.

Adult↗

PubMed1999

[Female circumcision; histories of 3 patients].

Three Somali women presented with problems of the infibulation they had undergone when they were girls. The first one was 22 years old and had problems with coition, the second one was 21 years old and had problems with parturition, the third one was 28 years old and had an epidermal cyst near the ventral commissure of the vulva. Infibulation is a form of female circumcision, in which the clitoris, labia minora and labia majora are removed and the ostium vaginae is reduced to less than a centimeter. In the Netherlands the Ministry of Health, Wellbeing and Sport and the Association of Obstetricians and Gynaecologists have declared themselves opponents to female genital mutilation carried out by Dutch physicians. The association decided also to not carry out reinfibulation, e.g. after parturition.

Adult↗

PubMed2000

Female gonad of moles, genus Talpa (Insectivora, mammalia): ovary or ovotestis?

The female gonads of moles (genus Talpa) are composed of a cortex, functioning as an ovary, and a medulla, which is structurally similar to that of the testis. In the female reproductive apparatus there are masculine glandular annexes, such as a bilobate prostate, two Cowper glands, and a penis-like clitoris. All these features have recently led to the hypothesis of the presence of hermaphroditism due to sex-reversal in Talpa. The purpose of this study is to understand the functional significance of the structural organization of the female gonads in order to verify this hypothesis. Histological, histochemical and ultrastructural analyses have been carried out on several gonads of both sexes of two species: T. europaea and T. romana, including three fetuses. In both species, the cortical region of the female gonad shows a regular oogenetic activity. While the medulla is composed of interstitial cells that are partly organized in cord-like structures, no spermatogenetic activity has been ever observed inside of them. A histochemical analysis shows that in both sexes the interstitial cells secrete steroids, presumably estrogens as well as androgens. The presence of androgens in the female gonads would therefore explain the persistence of male glandular annexes in the female reproductive apparatus and both the sexual and behavioral monomorphism typical of the genus Talpa. Nonetheless, the female gonad of moles is a real ovary and a well-defined gonochorism exists. Therefore, there is no reason to assert the presence of hermaphroditism due to sex reversal.

Androgens↗

PubMed2000

Twenty-four hour, non-invasive, neonatal chromosome analysis--application in a case of mixed gonadal dysgenesis.

INTRODUCTION: With the advent of interphase molecular fluorescent in-situ hybridisation (FISH), buccal mucosa can be used to provide an highly accurate assessment of those chromosomes most commonly causing abnormality in live-born children. CLINICAL PICTURE: A newborn child presented with ambiguous genitalia. The phallus-looking enlarged "clitoris" had a urethral opening at the ventral surface near the tip and the "labial" folds were completely fused. No definite gonads were palpable. Differential diagnostic possibilities included sex chromosome or a single gene abnormality such as congenital adrenal hyperplasia. Thus, one initial objective was to investigate the sex chromosomes. Buccal mucosa was used in conjunction with fluorescent molecular probes for the X and Y. This methodology enabled a firm diagnosis of a 45,X/46,XY mosiac to be made within 24 hours. Decisions could then be made concerning gender assignment. TREATMENT AND OUTCOME: Intervention by means of reconstructive surgery of the external genitalia would be made available at a later date. CONCLUSIONS: The use of buccal mucosa is non-invasive, easy to obtain and, when combined with molecular techniques, is reliable and accurate. The clinical implication of this methodology is that it will be especially useful in gender assignment or when rapid decisions on live-saving surgery have to be made in cases of possible aneuploidy.

Cytogenetic Analysis↗

PubMed1975

Melanoma of the vulva.

Twenty-three cases of malignant melanoma of the vulva recorded at Roswell Park Memorial Institute over a 36-year period have been reviewed. The findings confirm those of earlier series that these lesions tend to occur in postmenopausal Caucasians and most commonly originate on the labia minora and clitoris. Twenty of 23 patients were treated with therapy more conservative than radical vulvectomy and regional node dissection, with a resultant 25% 5-year survival and 10% 10-year survival among eligible patients. The fact that 12 of 14 recurrences surgical removal of these structures; No patient in this series with a lesion greater than 2 cm or with clinically positive groin nodes survived 5 years. According to the literature, very few patients with groin node involvement have survived, even with radical surgical therapy, and a combination of therapeutic modalities in treating these patients is recommended.

Adult↗

PubMed1995

Ultrastructure of lamellar complexes in glomerular Krause spherical corpuscles.

The authors compared the ultrastructure of lamellar complexes in the penis skin of the green monkey and in the woman's clitoris skin. In the green monkey the lamellar complexes consist of a maximum of 5 lamellae of Schwann cells, their greatest width is about 4.5 microm. The interlamellar spaces are filled with fine filamentous material. In the woman the lamellar complexes consist of a maximum of 7 lamellae, the interlamellar spaces are narrower than in the first case and filled with collagenous fibrils. Their maximum width is about 6.5 microm. The findings thus support the view that the lamellar complexes of glomerular corpuscles are morphologically and functionally similar to other simple lamellar corpuscles. The glomerular corpuscles contain also some non myelinated thin nerve fibers. Therefore for these corpuscles an additional (unclear) function can be considered.

Animals↗

PubMed2001

Construction of female urethra using buccal mucosa graft.

PURPOSE: We reviewed our experience with buccal mucosa grafts for reconstructing difficult female urethral problems. METHODS AND METHODS: Since 1994, we have used a buccal mucosa graft to reconstruct the urethra in 7 girls 3 to 13 years old. The underlying pathological condition was a fibrotic urethra after previous operations for cloacal exstrophy, cloacal malformation, iatrogenic urethral stricture, and multiple false passages in a previously reconstructed urethra of vaginal mucosa that made clean intermittent catheterization difficult. A full-thickness buccal mucosa graft was tubularized in situ as the neourethra to the base of the clitoris. In patients with cloacal exstrophy and cloacal malformation the bladder neck and urethra were widely exposed transabdominally by splitting the pubic symphysis. The fibrotic mucosa was excised and the tubularized buccal mucosa graft was wrapped with periurethral tissues. Other patients underwent transvaginal surgery in the prone position and the graft was covered with a buttock flap. RESULTS: Patients were followed for 12 to 58 months (mean 34.7). Those with cloacal exstrophy and cloacal malformation had been completely incontinent before urethral reconstruction but all attained complete continence postoperatively. They and the girl who underwent urethral reconstruction for difficult catheterization performed clean intermittent catheterization easily. The patient with urethral stricture voided via the urethra without difficulty. CONCLUSIONS: In select female patients with difficult urethral reconstructive problems a tubularized free graft obtained from the buccal mucosa may be effectively used when local tissue is fibrotic and unsuitable for creating a supple new urethra.

Adolescent↗

PubMed2001

Extreme insulin resistance syndrome.

Congenital extreme insulin resistance syndrome has rarely been reported in Taiwan. In 1982, a girl of a consanguineous marriage was noted to have increased body hair, an enlarged clitoris, and acanthosis nigricans at birth. Two months later, she received an operation for bilateral polycystic evaries. She was found to have diabetes at 8 years old and was treated with insulin. In March 1999, she was referred to our clinic with growth retardation and poor glycemic control. She had a characteristic face with a saddle nose, broad mouth, large low-set ears, absence of subcutaneous fat, and deformed nails. Although a very high dose of insulin (> 10 IU/kg/day) was used, her glycemic control was very poor (HbA1c 13.8%). Pediatricians should remain alert for the manifestations of extreme insulin resistance.

Adolescent↗

PubMed1975

[Case of male pseudohermaphroditism in cattle. (Bos taurus L.) with a 60 XY karyotype].

The clinical, anatomical, histological and cytogenetical evaluation has been made of a case of pseudohermaphroditism in domestic cattle. A 1,5 year old bull of unknown origin with general male features and male sexual orientation has been studied. It showed an underdeveloped udder and external female reproductive organs. The internal male genital organs showed underdeveloped testes and epididymis, vasa deferentia, vesicular glands, small penis and the clitoris-like glans penis. There were also remnants of female genital organs: uterus with uteri horns situated along the vasa deferentia and the vagina. The testes lacked germinal cells. The 60,XY karyotype has been stated on the basis of the blood lymphocyte culture. No Barr bodies have been found in the tissues. The possibility of development of this anomaly as freemartinism syndrome has been discussed. The obtained cytogenetical results enabled us to put forward the hypothesis that the bull did not derive from a heterosexual twin pregnancy. The possibility of absence of the hypothetic "X" factor (according to Jost), as a cause of this male external and internal pseudohermaphroditism has also been reviewed.

Animals↗

PubMed2001

[Stromal leydig cell tumor coexisting with ascites].

The stromal Leydig cell tumour (SLCT), a very rare, benign neoplasm was described in 75-year old woman. The patient presented the typical signs of virilisation (hirsutism, masculine alopecia, moderate clitoris enlargement, deep voice) as well as hypertension and insulin independent type of diabetes mellitus (IIDM). Additionally, she had marked ascites (3400 ml as established during surgery). The serum concentration of testosterone before the surgery was elevated up to 7.6 ng/ml. FSH and LH were at very low range (2.5 mIU/ml, 3.4 mIU/ml, respectively) whereas 17 beta-oestradiol was elevated (56 pg/ml). Total abdominal hysterectomy with salpingo-oophorectomy (TAH/BSO) and omentectomy were performed. The histopathological findings revealed stromal Leydig cell tumour with Reinke crystalloids. The postoperative follow-up was complicated by venous thrombosis. Five weeks after the surgery only slight regression of the signs of virilisation was observed. Hormonal findings were adequate to the patient age range (FSH--16.7 mIU/ml, LH--21.1 mIU/ml, testosterone--0.19 ng/ml, 17 beta-oestradiol concentration below 10 pg/ml).

Aged↗

PubMed1975

Sex chromosome mosaicism of X/XY or X/XY/XYY.

To date, we have studied 7 patients with X/XY mosaicism, one of whom showed an X/XY/XYY pattern. Four patients presented as newly born infants because of incomplete male development, ambiguity of external genitalia or Turner syndrome. The other 3 patients presented in midchildhood or early adult life. Bilateral gonadectomy, histologic examination of the gonads for tumor or testicular tissue, and chromosome analysis from blood and gonad specimens (and usually skin) were done in these 7 patients. The Y cell line and mosaicism were always detected in the blood culture although the predominant cell line in the majority of tissues was 45,X. The Y chromosome in one of the patients failed to show the expected bright fluorescence over the long arm, and the Y chromosome of another patient previously reported had a terminal nonfluorescing portion of the long arm. Patients with masculinization showed normal height and, on laparotomy, mixed gonadal dysgenesis. Patients with Turner syndrome showed bilateral streak gonads (2) and, in one 2 1/2-year-old girl, a bilateral gonadoblastoma. All patients with Turner syndrome were less than the third percentile in height. All 7 patients were reared as female, 4 of them requiring surgery to diminish the size of the clitoris. All 7 patients appeared to be developing normally. Nonrecognition or delay of the diagnosis, which still occurs in this condition, appears to be a result of the mild physical abnormalities in some patients and a clinical diagnosis of Turner syndrome supported only by a negative X-chromatin result.

Adolescent↗

PubMed2002

[Etiologic diagnosis and behaviour when confronted with abnormal hair growth in a child].

Knowledge of the physiology of hair follicle growth and its relationship to the endocrine and the metabolic system is essential in understanding abnormalities in hair development or hirsutism. Although there is no sexual dysmorphism in the distribution of hair follicles, there are many factors that induce hair growth. The first clinical measure is to differentiate all the intrinsic causes from auxologic and normal psychomotor development related to ethnic, racial and hereditary differences (generalized congenital or idiopathic hypertrichosis) and congenital causes within the context of a multi-malformation syndrome in which hirsutism is associated with mental retardation (Cornélia de Lange's syndrome), major hypotrophy (leprechaunism) or with abnormalities of the limbs (Rubinstein Taybi's syndrome or mucopolysaccharidosis). In these cases, the hormone balance is normal and genetic and/or metabolic explorations are required. Secondly, virilism may occur with hirsutism combining pubis and axillary hair growth, hypertrophy of the clitoris, and android characteristics. This results from hyperandrogenia with increased circulation of plasma androgens. Dynamic hormone tests (ACTH test and dectanyl suppression test), together with sonography help to determine the adrenal (hyperplasia, more frequent than tumors), gonadic (tumors, cysts or gonadic dysgenesis) or paraneoplastic origins (choriocarcinoma). In practice, most hirsutism is considered as idiopathic.

Abnormalities, Multiple↗

PubMed1995

Empowering women: interventions. Nigeria: new law to end FGM.

In March 1994, a Nigerian woman fighting to spare her young daughters from circumcision was saved from deportation from the US by a judge who called the practice cruel, painful and dangerous. Female Circumcision or Genital Mutilation has been a custom in male-dominated African societies to prevent promiscuity among women, reduce their sex urge and enhance their fertility and fecundity. The mutilation ranges from clitoridectomy (cuts in the clitoris) to infibulation (removal of the labia and sewing up most of the vagina). These practices that operated traditionally or in hospitals, are condemned in most parts of the world. In 1993, the WHO vowed to fight female circumcision, which has claimed the life of tens of thousands of women and subjected, and still subjects millions of others to suffering. In Nigeria, the Military Government is due to sign a new law that will end the practice. Indeed, parents who circumcise their daughters could face seven years imprisonment. This law is from legislation that is designed to improve health care for children in Nigeria.

Adolescent↗

PubMed1975

[Rudimentary uterus in testicular feminization (author's transl)].

The absence of uterus has been regarded by a number of authors as a condition for the diagnosis of testicular feminization, although cases with a rudimentary uterus have been reported. However, their number within the framework of this syndrome cannot be exactly determined. In the present report on a 22 year-old patient with testicular feminization and uterus bicornis solidus a double uterus malformation identical with that described in the Mayer-Rokitansky-küster syndrome was found. Forms of testicular feminization with rudimentary uterus in genetically-male individuals may be explained by the absence of androgens, or the absence of reactivity on the part of the target organ, and a simultaneous disturbance (lessening) of the function of the so-called X-factor (oviduct repressor) during early embryonal development. Our own observations, as well as reports in the literature, suggest a theory according to which testicular feminization may be regarded as a series of morphological variants, from male-oriented forms with vaginal aplasie, hypertrophy of the clitoris and male distribution of pubic hair, to female-orientated ones with a vagina of normal length and a rudimentary uterus. The absence of a uterus as a condition for the definition of the syndrome can be maintained only so far as no cases have, as yet been observed with a normally-developed uterus in a typical position. The karyogram showed a small Y-chromosome. Functional anomalies may only be surmised, since Y-anomalies are frequent (3% in a random collection). The morphology of the testes mirrored the functional embryonal insufficiency (pre-pubertal, undifferentiated testicular tissue with a varying amount of stroma and Leydig cells); the basal excretion of testosterone, 17-ketosteroid fractions and pregnane in the 24-hour urine was within the normal range for males. Oestrogen production over and above the "adrenal values" was also present. The values for plasma testosterone, which are in accordance with those of males of a similar age, are considered as indicating the importance of "androgen resistance in the periphery" as a factor in the aetiology of testicular feminization.

17-Ketosteroids↗

PubMedDate not supplied

[Sex correction in testicular feminization syndrome].

From 1993 to 2000 the authors observed 10 patients with testicular feminization. In spite of existent highly informative methods, early diagnosis of the genesis of abnormal sexual differentiation is not easy, it requires time. Treatment policy varied with the form of testicular feminization. In a complete form (6 patients), bilateral ventrofixation of the gonads (ovotestis) was made, in incomplete form (4 patients) male gonads were removed with subsequent replacement hormonotherapy. Correction of the external genitalia consisted in amputation of the hypertrophic clitoris with creation of the female-type external genitalia. It is emphasized that in incomplete testicular feminization surgical correction should be started before the appearance of secondary sexual characters to raise effectiveness of hormone treatment in formation of a female genotype.

Adolescent↗