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[Peripheral precocious puberty caused by a juvenile granulosa cell ovarian tumor, with iso and heterosexual manifestations in a six years old girl].

A six years old girl consulted due to mammary development. On physical examination, clitoris enlargement and a tumor localized in the abdominal-pelvic region were observed. Hormonal study disclosed elevated testosterone and estradiol levels. On exploratory laparotomy, a right ovarian tumor was observed and a right salpingooophorectomy was performed. The contemporary biopsy informed a disgerminoma, leading to a surgical staging of the tumor. The definitive pathological diagnosis was a juvenile granular cell tumor, limited to the ovary. In the postoperative period, estradiol and testosterone levels returned to normal values and the pseudopuberty reverted. The patient did not receive adjuvant treatment and after three years of follow up, there is no evidence of tumor recidivism.

Child↗

Appearance and culture: oral pathology associated with certain "fashions" (tattoos, piercings, etc.).

Humans are characterized by a compulsive tendency to distinguish themselves from the rest: differences in clothes, hairstyle or "decorative" details are used to this effect, based on highly diverse criteria. Such differentiating practices may be aimed at identification with a certain ideological group, for example, or with a concrete "fashion", and involve the use of jewelry, clothes, unusual attire, hairstyles, mutilations, etc. In this context, the present review addresses certain aspects of mutilation practices from both the general and specifically dental perspectives. Mutations imply permanent or lasting sectioning or lesions of a part of the body, and comprise skeletal deforming, dental mutilations, circumcision, ablation of the clitoris, scarification, tattoos, and perforations (particularly of the soft tissues). In this sense, tattoos and perforations or piercings are popular -- particularly among adolescents. This trend may be interpreted as a form of communication, identity expression, or as a type of body cult (i.e., so-called "body art"). Such mutilating practices reflect different motivations including fashion, rebelliousness, differentiation, sexual motives, the remembering of events, physical sensations, and ethnic or tribal influences. However, these practices can cause complications such as infections, laceration and soft and hard tissue damage, hypersensitivity reactions and other alterations of variable severity. Under these premises, questions are raised concerning the competence of those who perform these mutilations, the preventive measures adopted, and the legal conditions under which tattoos and piercings are made in our society.

Adolescent↗

The neurophysiology of the sexual cycle.

The cycle of sexual activity in men and women occurs in 4 phases--excitation, plateau, orgasm, resolution--which are guided by sexual desire. Male sexual activity is characterized by erection, seminal emission and ejaculation (orgasm), whereas female sexual activity is characterized by vaginal lubrication, erection of the clitoris and orgasm. These responses are under the control of numerous central and peripheral neural systems. The central supraspinal systems are mainly localized in the limbic system (olfactory nuclei, medial preoptic area, nucleus accumbens, amygdala, hippocampus etc.), in the hypothalamus and its nuclei (paraventricular and ventromedial nuclei). Neural information travels through the brain stem, the medulla oblongata, the spinal cord and the autonomous nervous system to the genital apparatus. While we have very detailed knowledge of the neural mechanism, which controls the function of the male and female genital organs, in particular those mediating erection, very little is known of the central mechanism involved. Nevertheless, several neurotransmitters and neuropeptides, such as dopamine, glutamic acid, nitric oxide, oxytocin, ACTH-MSH peptides, are known to facilitate sexual function, while serotonin, gamma-aminobutyric acid (GABA) and opioid peptides reduce it. At the level of the paraventricular nucleus a group of oxytocinergic neurons projecting to extra-hypothalamic brain areas, including the spinal cord, have been identified, which facilitate erectile function and copulation when activated and reduce both when inhibited. Although the majority of results, which have clarified the mechanisms involved, have been performed in males, it is believed that similar mechanisms are also operative in females.

Central Nervous System↗

Female sexual dysfunction: an update on physiopathology.

Despite the importance of sexuality for both men and women of all ages, only in the last few years extensive research has been carried out into female sexual problems. It has been discovered that sexual problems affect a considerable number of women each year, and this indicates the validity and necessity of further medical studies. We know that female genital sexual response is a combination of vasocongestive and neuromuscular events in the genital tract and pelvic floor which are controlled in part by specific neurotransmitters. Other pelvi-perineal genital structures undergo vasculogenic changes, namely the labia, periurethral glands, urethra and the Halban's fascia but much less attention has been paid to the role of these tissues in sexual response compared to the clitoris and the vagina. The most common etiologies of female sexual dysfunction are vasculogenic, neurogenic, hormonal/endocrine, muscologenic. The increasing various problems of female sexual dysfunction and the interest in the matter and the subsequent research are factors which keep the scientific community involved constantly active.

Female↗

The risk of medical complications after female circumcision.

The medical complications of the practice of circumcision were studied in 290 Somali women between ages of 18-54. Thirty-nine percent of the interviewed women had experienced significant complications after circumcision, most commonly haemorrhage, infection or urinary retention. Thirty-seven of the women reported a late complication of circumcision. Among these complications were dermoid cyst at the site of the amputated clitoris, urinary problems such as pain at micturition, dribbling urine incontinence and poor urinary flow. Forty of the women had experienced problems at the time of menarche and ten of them were operated because of haematocolpos. Most of the married women of the study sample were defibulated naturally by their husbands.

Adolescent↗

True hermaphrodite, 46,XX/46,XY karyotype with surgical reconstruction of ambiguous genitalia: a case report and literature review.

A 17-year-old phenotypic female with ambiguous genitalia is presented. The patient complained of progressive dysmenorrhea, passing urine and menstrual blood through the same opening since menarche. Pelvic examination revealed and enlarged clitoris with prominent phallus, an enlarged right labio-scrotal fold with palpable gonad and a 3 mm diameter opening of both the urethral meatus and vaginal orifice at the vestibule. Chromosome analysis showed 46,XX/46XY karyotype. Laparotomy via right inguinal incision confirmed true hermaphroditism because of finding a right unilateral ovotestis. Factors leading to delay in presentation are discussed and the need for early diagnosis and management is emphasized. The clinical, cytogenetic features, gonadal histology and management are described and discussed.

Adolescent↗

[Female genital mutilations, forced marriages, and early pregnancies].

Female genital mutilations, as well as forcible childhood marriage and their correlate adolescent pregnancies are traditional practices which, not only violate the dignity, but also jeopardize the health, and even the life, of women and their children. The complications of genital mutilations are frequent for a number of reasons: the fact that the clitoris is highly vascularized, the nature of the mutilations, excision or infibulation, and the poor conditions of hygiene. The short term complications are pain, hemorrhage, shock, and urinary retention. Medium term complications include gangrene, septicemia, tetanus, pelvic inflammatory disease, HIV/AIDS, and hepatitis B or C infections. Serious sequelae may occur, including infertility and gynecologic disorders, and sexual life is invariably altered. The main obstetrical complications of genital mutilations are genital lacerations involving the labia minor and the perineum, which can lead to hemorrhage and sequelae such as urinary or anal incontinence, recto-vaginal and vesico-vaginal fistulas. The role of doctors, which is delicate because these customs are entrenched, is to detect genital mutilations, repair them and prevent them, by participating in health education programs. The consequences of forcible childhood marriage are serious, besides the fact that this is a disguised form of rape. The obstetrical risks favored by the underdevelopment of the uterus and the pelvis, include uterine rupture, preeclampsia and eclampsia, and obstetrical hemorrhage. The fetus/neonate are jeopardized by these complications, which can result in perinatal asphyxia and death, as well as the high rates of intrauterine growth retardation and preterm delivery. The impact of genital mutilations on delivery are compounded in childhood pregnancies for anatomical reasons, but also because these adolescents or children are extremely vulnerable and have poor access to perinatal care. In France, as well as in Africa, non-governmental and women's rights organizations are active in preventing these practices. We strongly recommend that these groups should receive aid and encouragement.

Adolescent↗

Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in Taiwan.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. We have experience of molecular analysis of in the CYP21 gene in 85 unrelated CAH families, in Taiwan for ten years. All ten exons of were analyzed by differential polymerase chain reactions (PCR) followed by single-strand conformation polymorphism (SSCP) analysis and the amplification-created restriction site (ACRS) method. More than 90% of the mutations were due to conversion of DNA sequences into its neighboring homologous pseudogene CYP21P. The most frequent mutation found in CAH patients in Taiwan was intron 2 mutation; the others were exons 8, 4 and 3, respectively, decreasing by frequency. Those were single homozygous mutations. In this report, we present two kinds of special mutations in our molecular research. Four families had their babies coming from combined homozygous mutation of both parents, that is due to both intron 2 (nt656) and 8-bp mutation. Eleven families had their babies coming from paternal codon 172 and maternal intron 2 (nt656) compound heterozygous mutations, that is codon 172 pat/int 2 (nt656) mat mutation. These two mutations had clinical manifestation of virilization, that is, enlarged clitoris only, but neither clinical nor laboratory finding of salt-losing. From our study, we found that autosomal recessive disorders such as simple virilizing CAH in our series could result from either combined homozygous mutations or compound heterozygous mutations. Further molecular study will focus on the salt-losing type in order to correlate the genotype/phenotype with this study.

Adrenal Hyperplasia, Congenital↗

Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis.

Congenital anomalies involving tibial aplasia are rare. Recently, four children with an unusual combination of limb anomalies, facial dysmorphism and genital hypoplasia have been reported. All affected children reported were male. One case noted father to son transmission, implying autosomal dominant inheritance. We report the first female patient with this syndrome. The patient had tibial aplasia, mirror image preaxial polydactyly involving her feet, brachyphalangy, genital hypoplasia as well as facial dysmorphism including telecanthus, blepharophimosis, a flat nasal bridge with a small nose and a small mouth. Consistent with reports in males of a micropenis and hypoplastic scrotum, our patient had absent labia minora and a very small clitoris. Her father had very minor anomalies suggestive of somatic mosaicism or marked variability. Mouse models affecting limb development are powerful tools in the study of human syndromes. The clinical phenotype of patients with this syndrome is reminiscent of some luxoid mouse mutants suggesting Alx4 and related members of the paired homeodomain class as candidate genes. ALX4 haploinsufficiency in humans causes parietal foramina, which one patient with this syndrome was reported to have. Sequencing of coding exons of ALX4 and its related homologue, ALX3, in the proband failed to reveal coding sequence alterations. Our father/daughter pair is the second family reported, supporting a dominant mode of inheritance. Moreover, the very mild phenotype in the father suggests the need for very careful attention to parental examination in such cases.

Abnormalities, Multiple↗

[Intersexuality in dogs: causes and genetics].

Failures in the establishment of chromosomal, gonadal and phenotypic sex can cause intersexuality in dogs. Thus, diagnosis of chimaerism, mosaicism, sex reversal syndrome, and male or female pseudohermaphroditism in intersex individuals has to be based on the inspection of the chromosomes, gonads and the phenotypic appearance of the reproductive organs. In a study over two years, seven dogs of different breeds suspected to be intersexes were cytogenetically investigated. A sry-negative XX-sex reversal syndrome was diagnosed in a Jack Russel Terrier. In a mixbred dog a persistent Mullerian duct syndrome (PMDS) was found and a Border Terrier Dog showed an XX/XY chromosomal chimaerism. In further four dogs of different breeds, a female constitution of sex chromosomes was seen. As a sign of intersexuality each of these dog showed an enlarged clitoris. A differentiation between XX-sex reversal syndrome and female pseudohermaphroditism was not possible because there was no information on the internal genital tract and gonads available.

Animals↗

The influence of some prognostic factors on the clinical outcome of patients with squamous cell carcinoma of the vulva.

The present paper examined the influence of patient age, surgical T stage, tumor size, tumor differentiation and lymphnodal status on the clinical outcome of 29 patients with primary vulvar squamous cell carcinoma treated with radical surgery. Eighteen patients underwent radical vulvectomy with bilateral inguinal-femoral lymphadenectomy alone; 10 patients had additional bilateral pelvic lymphadenectomy; another patient had additional bilateral pelvic lymphadenectomy and anterior pelvic exenteration for a carcinoma of the clitoris involving the urethra. Nine patients developed relapsing disease; the site of recurrence was local in 4 patients, inguinal in 2, both local and inguinal in one patient, pelvic in one, both pelvic and distant in one. Eight recurrences occurred within 24 months from surgery; another patient developed an inguinal recurrence 45 months after operation. The actuarial 5-year disease-free survival rates were as follows: 64% for patients younger than 70 years and 63% for patients 70 years of age or older (p = not significant); 79% for patients with surgical T1-T2 stage disease and 30% for those with surgical T3 stage disease (p = 0.01); 88% for patients with tumor size less than 3 cm and 31% for those with tumor size greater than 3 cm (p less than 0.001); 66% for patients with well or moderately differentiated tumor and 51% for those with poorly differentiated tumor (p = not significant); 82% for patients with negative groin lymph nodes and 39% for those with positive groin lymph nodes (p less than 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Evaluation of sentinel node detection in vulvar cancer.

BACKGROUND: In vulvar cancer, in a large portion of patients with early stages of the disease, the inguinal lymphadenectomy not only does not influence the overall survival and recurrence rate but may increase the incidence of complications. Sentinel lymph node (SN) detection is a promising technique for detecting groin lymph nodes, which may in future lead to less extensive use of surgical treatment. The aim of the study was to evaluate the feasibility of the sentinel node detection technique in patients with vulvar cancer. MATERIAL AND METHODS: Between the years 2003 and 2005, we performed intraoperative lymphatic mapping on 10 patients with planoepithelial vulvar cancer. In eight cases, vulvar lesion was localized centrally, around the clitoris. The extent of the surgery included radical vulvectomy with bilateral inguinal lymphadenectomy in nine cases and unilateral inguinal lymphadenectomy in one case. For the lymphatic mapping, we employed two detection methods: (99m)Tc-labelled radiocolloid (activity 35-70 MBq) and blue dye (3-5 ml). Both techniques were used in six cases (60%), blue dye only in three cases and radiocolloid only in one case. RESULTS: In each patient, we detected at least one sentinel lymph node. Sentinel nodes were localized in 14 of 19 operated groins (73.7%); a total of 25 SNs in all. The mean number of SNs for one groin was 1.78. Nodal metastases were found in four cases. In three cases, metastases were detected only in the SN. In one patient, two SNs with metastases were found in one groin and in the contralateral groin (without any SN) there was one unchanged node, which transpired to be metastatic. This can be explained by a complete overgrowth of neoplasm in the lymph node resulting in lymph flow stasis and disabling tracer uptake. In five cases, an SN was found only in one groin ó the first case is described above, in the second case the vulvar tumor was localized laterally, opposite to the groin without any SN. In the remaining three cases, we have used only one method of SN detection. CONCLUSIONS: Lymphatic mapping in vulvar cancer based on the combined detection technique is a highly accurate method after adequate training of the surgeons.

Adult↗

Primary amenorrhea associated with ovarian leiomyoma in a baboon (Papio hamadryas).

A 6-y-old female baboon was examined due to absence of menstrual cycling and secondary sex characteristics and failure to reproduce. The mammary glands and vaginal introitus were hypoplastic, the clitoris was prominent, and the perineal skin was immature with lack of cyclic color alterations and sexual swelling. Evaluation of the reproductive tract revealed a hypoplastic uterus and rudimentary ovaries with the presence of an ovarian leiomyoma within the right ovary. Hormonal values (estradiol, progesterone) were low and comparable to those of adult males or ovariectomized females. Adrenal and pituitary hormones (dehydroepiandrosterone, luteinizing and follicular stimulating hormones) and pituitary structure were within normal limits for this species. The baboon had a normal 42,XX karyotype. These findings suggest primary amenorrhea due to ovarian dysgenesis. This is the first report of a case of primary amenorrhea due to ovarian dysgenesis with a normal karyotype associated with a unilateral ovarian leiomyoma in the baboon. Continued studies of noncycling female nonhuman primates in captive breeding colonies may lead to a greater understanding of the underlying causes of this condition.

Amenorrhea↗

[Sacral staged reflexes to localize the pudendal compression: an anatomical validation of the concept].

Pudendal neuropathy is common. The diagnosis is clinical and the confirmation is electrophysiological. Distal pudendal nerve latencies have been used but they are unspecific and do not allow to localize the site of compression. A preliminary electrophysiological study has suggested separate innervations of the anterior and the posterior anal sphincter quadrants, so diverging from what main anatomy textbooks teach. By detailed dissections of pudendal nerve region we can confirm a dichotomy in the innervation of the two quadrants. Therefore, it seems feasible, by using the differences of staged sacral reflexes, to better localize the compressive neuropathy, with a stimulation of the clitoris and by recording latencies of different muscles.

Cadaver↗

[Sexuality of pregnant women].

Over the time when the sexual intercourse has been considered merely one of a number of forms of sexual contact, views on sexuality during pregnancy have undergone considerable transformation. A great many of authors emphasise, that the pregnancy is a stimulus for partners to search for ways to maintain mutual emotional bond, close physical affinity and satisfy sexual needs not necessarily finished with an intercourse. The fact, that one of the two partners is pregnant, imposes some restrictions on sexual life. Not rarely, in particular in the first trimester of pregnancy, a female is little interested in sex. It is due to, inter alia, hormonal changes resulting in nausea, fatigue and increased nervosity. These symptoms contribute to general feebleness and reduction of the level of sexual needs and difficulty to become aroused and sexually ready. In spite of that, a lot of women have the need to keep physical and emotional contact with their partners. For a number of couples, pregnancy becomes a stimulus to search for new ways of pleasing each other in love play, that does not necessarily leads with an intercourse. Most studies concerning sexuality during pregnancy focus on observing sexual activity, physiological changes, mutual relationship of partners, analysis of sexual intercourses and investigation of so-called sexual satisfaction. Examination of sexual satisfaction ruchedes the frequency of sexual contacts, intercourses, foreplay, concurrence of orgasms in the two partners, partners' happiness, sexual satisfaction and mutual heartiness. In some researchers' opinion, sexual satisfaction correlates with the feeling of happiness resulting form being pregnant, pregnant woman's feeling still attractive and experience of orgasm. However, some researchers observe reduced sexual activity during pregnancy, except for the second trimester, when sexual activity is similar to the one outside pregnancy. Pregnant women prefer the following types of sexual activity: non-genital fondling, stimulation of the clitoris, vagina and breasts, oral and anal stimulation and masturbation. Females and their partners are underinformed on sexual life in pregnancy. The research indicates that 68% young mothers were not informed during pregnancy by a gynaecologist or midwife about sexual problems in pregnancy and, in particular, about possibility to derive sexual satisfaction. The research makes it evident, that experiencing sexual satisfaction by pregnant women improves their self-esteem, facilitates mutual relationship between partners and tightens the marital bond.

Adult↗

[A case report of Buschke-Lowenstein tumor (giant condyloma)].

A 28-year-old woman with diabetes mellitus and alcoholic hepatitis presented a rare case of Buschke Lowenstein tumor, or giant condyloma of vulva. HPV DNA of this tumor was detected by in situ hybridization using tritium labeled HPV 6 b, 16 and 18 DNA. This tumor appeared to harbour HPV 6 b DNA, but other HPV DNAs were negative. The distribution of HPV 6 b DNA was detected in the nucleus of the squamous epithelium showing koilocytosis. Total vulvectomy and resection of the clitoris were done. The postoperative course was uneventful and there has been no recurrence of tumor so far.

Adult↗

[Melanoma of the lower female urogenital tract (gynecological melanoma)].

Eight cases of melanoma of the lower female urogenital tract are presented. The lesions were located 5 in the vulva, 2 in the vagina and 1 in the urethra. Patients had a mean age of 58.3 (range 43-80). Most of vulvar melanomas were polypoid and black, 3 of them arose in the major labium, 2 in clitoris area; histologically, four tumors were superficial spreading melanomas and one unclassifiable. Grossly, one vaginal melanoma was nodular, one polypoid, both were black and arose in the lower vagina. Urethral melanoma arose in the distal part of the organ. Prognosis of gynecological melanoma is severe, as 5 out of 8 patients died in 5-52 months.

Adult↗