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PubMed1993

Adrenocortical carcinoma in children: clinical aspects and prognosis.

Although adrenocortical carcinoma is seen infrequently in children in most countries, it is occurs with significant frequency in Southern Brazil. This has enabled a study of the pattern of this disease in the pediatric age group. Of 78 patients with adrenocortical carcinoma seen at two hospitals in Curitiba, Brazil, 55 were adequately documented, with minimum of 2 years' follow-up, and formed the basis of this paper. Ninety-five percent of the patients showed some degree of virilization, notably pubic and/or body hair, clitoris or penis enlargement, and adult voice. Cushing's syndrome was present in 73% of these cases. The prognosis is age related and is dependent on the resectability of the tumor. Whereas 82% of the children under the age of 2 years survived, the figure for those over the age of 2 years was only 29%. When total resection of the tumor was possible, the survival rate was 67%, with no survival when only partial excision was performed.

Adrenal Gland Neoplasms↗

PubMed1992

Vulvar pseudolymphoma.

We report a 31-year-old patient with longstanding complaints of vulvar itching and painful intercourse treated with many antimycotic drugs. On examination a small tumor, clinically not differentiable from a malignant lymphoma, on and near the clitoris was found. After excision biopsy the lesion proved to be a pseudolymphoma. Six months after excision of this rare vulvar tumor the patient was completely free of complaints. Although pseudolymphomas are small benign tumors they may case diagnostic problems and major complaints. To our knowledge this very rare disorder has not been reported in the gynecological literature until now.

Adult↗

PubMed1975

Accessory phallic urethra in female pseudohermaphrodite.

The eighth case of a female pseudohermaphrodite with hypertrophy of the clitoris, a perineal and complete accessory phallic urethra, but without adrenal hyperplasia, is reported. The etiology of this syndrome and the rationale of its treatment are discussed and the literature reviewed.

Adrenal Glands↗

PubMed1992

Aggressive angiomyxoma of the vulva.

A case of aggressive angiomyxoma (AAM) of the vulva is presented. The tumor presented as a slowly growing polypoid mass in the right labium minus near the clitoris. The tumor was treated by wide local excision. The microscopic appearance was that of spindle-shaped neoplastic cells widely separated by a loose myxoid stroma rich in collagen fibers, hyaluronic acid, and prominent irregular-shaped blood vessels. Aggressive angiomyxoma of the vulva must be distinguished from the more common benign and malignant myxoid tumors including myxoma, myxoid liposarcoma, myxoid variant of malignant fibrous histiocytoma, sarcoma botryoides, nerve sheath myxoma, and other soft tissue tumors with secondary myxoid changes. Local recurrence of AAM may be avoided by wide local excision.

Adult↗

PubMed1991

True hermaphroditism in a wild sheep: A clinical report.

Intersexuality in sheep is rare, with the freemartin anomaly being the most common. We describe here a true hermaphrodite in a wild sheep. An F(1) wild sheep ewe of Argali-mouflon X Mexican desert bighorn breeding was bred to an F(1) ram of the same breeding. A single lamb was born with the external appearance of a normal female. The lamb grew faster than its female cohorts, and by 6 months of age exhibited the aggressive behavior, size, coloration and horn development associated with males. Phenotypically, the intersex had female external genitalia with an enlarged clitoris. A human chorionic gonadotrophin (hCG) response test was performed when the intersex was 1-year-old and serum testosterone, progesterone and estradiol levels were compared to the response of a normal female and male of similar age and breeding. An exploratory celiotomy revealed two gonadal-like structures associated with a female reproductive tract. Histopathology of the structures revealed spermatogenically inactive testicular vessels and ovarian tissue with primary follicles. The reproductive tract was complete with two uterine horns and a cervix. The intersexuality is attributed to an XX/XXY mosaic.

Journal Article↗

PubMed1992

Prenatal diagnosis/treatment in families at risk for infants with steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).

The most common enzymatic defect of steroid synthesis is adrenal steroid 21-hydroxylase deficiency. Inhibited formation of cortisol causes increased pituitary release of ACTH, driving the adrenal cortex to overproduce androgens, whose synthesis does not involve the 21-hydroxylase enzyme. This hormonal setting is established in the embryonic period and affects development of genetic females, misdirecting differentiation of the external genitalia toward male type. At birth, the genitalia are visibly ambiguous (enlarged clitoris, fused labia) or in some cases even male in appearance (phallus with urethral opening, rugated scrotal sac), leading to wrong sex assignment. Adrenal steroid 21-hydroxylase deficiency is the most common basis of female pseudohermaphroditism. These females, however, have normal fertility and potential for gestation (gonads are functional and the internal duct-derived structures are well-formed), thus the sex of rearing should always be female. Management is by life-long hormonal (glucocorticoid) replacement, with surgical correction of the genital ambiguity. Prenatal diagnosis of 21-hydroxylase deficiency, first possible by steroid assay of the amniotic fluid, has utilized HLA typing for identification of loci (antigens B and DR) in close linkage with the 21-hydroxylase gene, and now increasingly relies on DNA analysis for linked HLA or C4 genes or for mutant 21-hydroxylase alleles directly by molecular genetic techniques. The most recent clinical advance is a program of combined prenatal diagnosis with karyotyping and suppression of fetal androgen production in genetic females by steroid administration to the mother. This is the first instance of an inborn metabolic error to be prenatally treated. A series of 85 managed pregnancies is reported on, including accuracy of diagnosis, response of the mother to steroid treatment, and outcome for treated and untreated male and female fetuses (of 77 born by 6/91). Prenatal diagnosis by current techniques is accurate. Normal growth and development patterns postnatally suggest that dexamethasone treatment is safe.

Adrenal Hyperplasia, Congenital↗

PubMed2005

A case of freemartin with atresia recti and ani in Japanese Black calf.

A female Japanese Black calf was born on 25 March 2003 at Hiroshima University Farm as a co-twin to a male Japanese Black calf. The male calf showed no external urogenital abnormalities. The absence of anal opening and external features of freemartinism were observed in the female. A small opening to the vulva (about 1.5 cm in length) with fused lips and a prominent clitoris were seen. The hair around the vulva was 3.5 cm in length and was heavy and dense. The distance from the vulva to the atretic anus was 9.0 cm. There were no other detectable abnormalities on physical examination. The PCR-based DNA test showed male-specific sequences confirming the calf to be freemartin. At autopsy 1 day after the calf birth, the gonads were found to be small and hard and the left uterine horn showed segmental aplasia near its proximal end. Two seminal glands (remnants of mesonephric duct) were located on both sides of the uterine body. A cervix was absent. The vagina was underdeveloped and looked like a tubual structure. The rectal end was closed, while the distance from the end of the atretic rectum to the absent anal opening was about 4.0 cm. On histological examination, the gonads exhibited extensive morphologic alteration; there was no cortex with the absence of ovarian structures. The seminal glands consisted of hypoplastic glandular tissue surrounded by extensive fibrous connective tissue. In conclusion, this is a case report of a freemartin with atresia recti and ani.

Anal Canal↗

PubMed2006

Normal male chromosome complement and a lack of the SRY and SOX9 gene mutations in a male pseudohermaphrodite dog.

In this report we present a case of the male-to-female sex reversal syndrome in a Dachshund bitch. The animal was subjected for examination due to the enlargement of clitoris and male-type behaviour. The cytogenetic analysis (Giemsa staining and FISH with sex chromosome specific probes) revealed a normal male chromosome complement (78,XY). The molecular analysis of the SRY and SOX9 genes with the use of SSCP technique did not reveal any polymorphism. Blood testosterone concentration was low (0.75 ng/ml), thus the androgen insensitivity syndrome could be excluded. We suggest that this case may represent a persistent Müllerian duct syndrome.

Animals↗

PubMed2006

[Surgical treatment of male-to-female transsexuals: a ten-year experience assessment].

From May 1995 to March 2005 sixty-three consecutive male-to-female gender transformation surgeries were performed at our university center by one author. Our retrospective study collected data from medical records, questionnaire and physical examination. Fifty-nine percent of patients had autologous blood transfusion. Histological examination of testicles found beginning cancer in 1 case. After a-8-year initial period where secondary bilateral Z-plasties were systematically performed, this procedure was abandoned because it left unnatural visible scars. Excluding haematomas (9 cases), we found 8 major complications (12,6%): 1 rectal lesion, 1 leg compression, 5 skin necrosis of the vaginoplasty (total necrosis in 2 cases, partial necrosis in 2 cases, necrosis of full-thickness skin graft in 1 case), and 1 secondary post-traumatic rectovaginal fistula. The questionnaire was completed by 22 patients with a-45-month mean follow-up. Results were graded on a 0 to 10 scale. Mean grades were global satisfaction: 7.6, life quality: 8.4, genitalia appearance: 8.0, clitoris sensitivity: 8.4, urinary function: 8.3, vaginal function: 7.2, sexual function: 7.0. Rate of general satisfaction was high. In a few cases however, patients expressed some disappointment both in being considered as women in their daily living and in having sexual intercourse. These poor results seem clearly related to unfavourable anatomical and morphological initial conditions. Our series demonstrates that surgical treatment of psychiatric disorders meets physical limitations.

Adult↗

PubMed2005

Horse shoe flap vaginoplasty--a new technique of vaginal reconstruction with labia minora flaps for primary vaginal agenesis.

Reconstruction of the vagina has always been a formidable surgical challenge. A variety of procedures with varying degrees of success have been described, but none has proved to be the ideal method. We have done 15 vaginal reconstructions using labia minora flaps. In the first eight patients, we used two labia minora flaps and sutured them together to create a neovagina. In the last eight patients this new technique of vaginoplasty using horse shoe labia minora flap was used. The neovagina is dilated gradually for a period of 3 months and at the end of 3 months the patient has an adequate sized vagina. All were done for vaginal agenesis. Horse shoe flap vaginoplasty in Mayer, Rokitansky-Kuster-Hauser syndrome is a new technique. The entire hairless skin within the labia majora is used to create a neovagina. Both the labia minora along with the prepucial skin of the clitoris is elevated as a single flap thereby increasing the dimension of the Neovagina and also augmenting the blood supply of the flap, making it more reliable and finally the design simplifies the technique of suturing the neovaginal tube.

Adolescent↗

PubMed2004

Pattern of sensory innervation of the perineal skin in the female rat.

Here we describe the nerves innervating the perineal skin together with their sensory fields in the adult female rat. Electrophysiological recording showed that the lumbosacral and L6-S1 trunks, in part by way of the sacral plexus, transmit sensory information from the perineal skin via four nerves: the viscerocutaneous branch of the pelvic nerve innervating the skin at the midline between the vaginal opening and anus, the sensory branch of the pudendal nerve innervating the clitoral sheath, the distal perineal branch of the pudendal nerve innervating a broad area of skin adjacent to the vaginal opening and anus, and the proximal perineal branch of the sacral plexus innervating a broad area of skin adjacent to the clitoris and vaginal opening. The sensory fields of three of these nerves overlapped to some degree: the viscerocutaneous branch of the pelvic and the distal perineal branch of the pudendal nerves at the midline skin between the vaginal opening and the anus, and the distal perineal branch of the pudendal nerve and the proximal perineal branch of the sacral plexus at the skin lateral to the vaginal opening. Such overlap might provide a safeguard helping to ensure that somatosensory input from the perineal region important for triggering reproductive and nonreproductive reflexes reaches the CNS.

Animals↗

PubMed2006

Evidence for the presence of the spinal pattern generator involved in the control of the genital ejaculatory pattern in the female rat.

Substantial progress has been made during recent years in elucidating the control of male ejaculatory function by the central nervous system. These efforts have revealed the participation of a central pattern generator in the control of ejaculation. There is a strong similarity in the neural organization of male and female sexual functions. In the present study, the hypothesis that the spinal generator for ejaculation was present and functional in the female rat was evaluated. To this purpose, the expression of the ejaculatory motor pattern and its pharmacological activation in spinally transected female rats were investigated. Results revealed the presence in females of the already described rhythmic ejaculatory motor pattern of male rats. This ejaculatory motor pattern could be registered in the urethralis muscle of the female rat after mechanical stimulation of the urethra, vagina and clitoris and consisted, as in the male rat, of a first ejaculatory motor train followed by an after-discharge component. Besides, the female genital ejaculatory motor pattern could be pharmacologically induced by the systemic injection of sodium nitroprusside with similar motor characteristics. No significant differences between the sensorial and pharmacologically induced female genital motor patterns were found. Present findings provide evidence for the presence of the genital motor pattern of ejaculation in female rats and suggest that the spinal generator for ejaculation is also present and functional in this gender.

Analysis of Variance↗

PubMed2006

Dorsal buccal mucosa graft urethroplasty for female urethral strictures.

PURPOSE: We describe the feasibility and complications of dorsal buccal mucosa graft urethroplasty in female patients with urethral stenosis. MATERIALS AND METHODS: From April 2005 to July 2005, 3 women 45 to 65 years old (average age 53.7) with urethral stricture disease underwent urethral reconstruction using a dorsal buccal mucosa graft. Stricture etiology was unknown in 1 patient, ischemic in 1 and iatrogenic in 1. Buccal mucosa graft length was 5 to 6 cm and width was 2 to 3 cm. The urethra was freed dorsally until the bladder neck and then opened on the roof. The buccal mucosa patch was sutured to the margins of the opened urethra and the new roof of the augmented urethra was quilted to the clitoris corpora. RESULTS: In all cases voiding urethrogram after catheter removal showed a good urethral shape with absent urinary leakage. No urinary incontinence was evident postoperatively. On urodynamic investigation all patients showed an unobstructed Blaivas-Groutz nomogram. Two patients complained about irritative voiding symptoms at catheter removal, which subsided completely and spontaneously after a week. CONCLUSIONS: The dorsal approach with buccal mucosa graft allowed us to reconstruct an adequate urethra in females, decreasing the risks of incontinence and fistula.

Aged↗

PubMed2005

A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.

OBJECTIVES: To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family. METHODS: Two female siblings of a family with 7 children were referred to the urology department because of bilateral inguinal masses. The patients had presented after birth with ambiguous genitalia, but no further diagnostic procedures had been performed, and they were raised as girls until the ages of 13 and 15 years. At this time, both had striking ambiguity of the genitalia, with a clitoris-like phallus, severely bifid scrotum, pseudovaginal perineoscrotal hypospadias, a rudimentary prostate, and inguinal testes. Karyotype was 46,XY. Basal and stimulated levels of serum testosterone (T), dihydrotestosterone (DHT), and T/DHT ratio indicated 5-alpha reductase deficiency. Molecular genetic analysis was performed on deoxyribonucleic acid from peripheral blood leukocytes by single-stranded conformational polymorphism analysis and direct sequencing. RESULTS: Analysis of the SRD5A2 gene revealed a new homozygous missense mutation in exon 2. At codon 123, we identified a GGA to AGA change resulting in a missense amino acid change from glycine to arginine (G123R). Both parents and the 2 healthy sisters and 3 brothers were all heterozygous at codon 123 for the same mutation. CONCLUSIONS: We report a novel homozygous missense mutation in exon 2 of the 5-alpha reductase type 2 gene that led to severe undervirilization in 2 siblings.

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

PubMed2004

Failure in the detection of the sentinel lymph node with a combined technique of radioactive tracer and blue dye in a patient with cancer of the vulva and a single positive lymph node.

BACKGROUND: In early stage vulvar cancer, the sentinel lymph node procedure with a radioactive tracer appears to be a promising new diagnostic tool to predict lymph node status. No detection failures have been published so far in vulvar cancer. We recently experienced failure in the detection of the sentinel lymph node in a patient with a positive lymph node. CASE: A 75-year-old patient with a clinical T2N0M0 squamous cell carcinoma replacing the clitoris underwent a sentinel node procedure. A sentinel node was detected only at one groin. An exploration of the other groin showed a positive lymph node totally replaced by tumor. CONCLUSION: In the case we present, stasis of the lymph flow might be the leading cause of the failure of the sentinel lymph node procedure.

Aged↗

PubMed2004

Recurrent vulvar carcinoma in pregnancy.

BACKGROUND: Vulvar carcinoma is rare in the premenopausal age group. The incidence during pregnancy is even more uncommon. To date, no cases of recurrent vulvar carcinoma in pregnancy have been reported. We describe the first case of recurrent vulvar carcinoma during the same pregnancy. CASE: A 36-year-old G5P4004 presented with vulvar pain at 18 weeks of pregnancy. She had a 2.2-cm tender mass anterior to the left labium majus, of which a biopsy revealed invasive squamous cell carcinoma. At 23 weeks' gestation, she underwent a modified radical vulvectomy and bilateral inguinofemoral lymph node dissection. Eleven weeks later, she complained of a newly tender area to the right of the clitoris. A biopsy at that time demonstrated predominantly severe vulvar intraepithelial neoplasia (VIN III) with a small focus of invasive squamous cell carcinoma. A radical local excision was performed at 9 weeks postpartum. CONCLUSION: Careful surveillance is warranted as squamous cell carcinoma recurrence can occur quickly in the setting of pregnancy.

Adult↗

PubMed2005

Vulval Keratoacanthoma: a case report.

BACKGROUND: Vulval Keratoacanthoma (KA) is very rare and its differential diagnosis from the commonly occurring Vulval Squamous Cell Carcinoma (SCC) is important to avoid overtreatment. CASE: A case of Vulval KA in a 79-year-old lady is reported. She presented with a 9-mm firm raised lesion on the antero-lateral left side of the clitoris of a few months' duration with no associated symptoms. The lesion was resected with clear margins and the excision site was well healed at her appointment 4 weeks later. CONCLUSION: We share our experience reporting the fifth case of a vulval KA in the world literature. Consideration to the occurrence of vulval KA is important to avoid both an erroneous diagnosis of vulval SCC and the associated consequences of radical surgery.

Aged↗

PubMed2006

A case of a pT3, HPV 52-positive vulvar carcinoma in an 18-year-old woman.

BACKGROUND: Vulvar carcinoma in young women is rare; so far, no case of an 18-year-old woman has been described. Here, we report a case with a T3 HPV 52-induced tumor 3 years after primary HPV contamination. CASE: An 18-year-old woman without risk factors complaining of dysuria and vulvar pain was treated several months for fungal infection before referred and diagnosed with a vulvar carcinoma located between clitoris and urethra. She underwent operation with partial urethral resection and external radiation. The tumor tested positive for HPV type 52, the time between primary sexual contact and tumor development was less than 3 years. CONCLUSION: Also in very young women, an ulcer and vulvar pain have to be biopsied to exclude malignancy despite an unusual short time interval between possible HPV contamination and symptoms.

Adolescent↗