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At least 433 records · Page 24Linked to original sources
PubMed1984

Testicular regression in a patient with virilized female phenotype.

The 16-year old girl studied here had ambiguous external genitalia, ie, enlarged clitoris, pseudo vagina, and rudiments of Wolffian tubes. Her karyotype was 46,XY and she was H-Y antigen-positive. In spite of absence of gonadal tissue, genital virilization suggests presence of testes during embryogenesis. This patient is compared to 20 others with testicular regression from the literature. Autosomal-recessive inheritance of this condition is proposed.

Adolescent↗
PubMed1991

Opitz trigonocephaly syndrome.

We report on a patient with Opitz trigonocephaly syndrome. The girl was the first-born child of consanguineous parents and had trigonocephaly, apparent hypertelorism, upslanted palpebral fissures, strabismus, small nose with broad root, abnormally modeled ears, high palate, short neck with loose skin, polysyndactyly, and prominent clitoris and labia majora. In addition, a complex cardiovascular defect (Eisenmenger disease) was observed. The patient was mentally retarded.

Abnormalities, Multiple↗
PubMed1992

Dwarfism, rhizomelic limb shortness, and abnormal face: new short stature syndrome sharing some manifestations with Robinow syndrome.

We describe a child with short stature of prenatal onset, rhizomelic limb shortness affecting the upper limbs particularly, and an unusual face. She had frontal balding, mid-face hypoplasia, a small nose, macrostomia with down-turned corners of the mouth, gingival hypertrophy, and hypoplasia or absence of the clitoris. There was no gross modelling defect of the skeleton and the vertebral column was normal. Some of these manifestations overlap with those of Robinow syndrome.

Abnormalities, Multiple↗
PubMed1990

Early determination of fetal sex using transvaginal sonography: technique and pitfalls.

Transvaginal sonography (TVS) enables sex determination at an early stage of pregnancy. The morphologic features of fetal external genitalia at 13 weeks to 16 weeks, menstrual age, are different from those seen later in pregnancy; therefore an attempt to determine fetal gender at this early stage by the same criteria as those used later is hazardous, especially for determining the male sex. The main diagnostic criteria for male gender determination by TVS are the "dome" sign representing the sonographic visualization of the fetal scrotum, the cranially directed phallus, and the longitudinal raphe at the base of the penis. The diagnostic criteria for female gender are the 2 or 4 parallel lines representing the labial folds and the caudally directed phallus (clitoris). The length of the fetal phallus at this early stage is not diagnostic and may be the main pitfall to the unexperienced sonographer. Between weeks 13 and 14 sex diagnosis was possible in 130/171 pregnancies (76%) in our first 2 years and 188/235 (80%) in our last 2 years of experience. Between weeks 15 and 16 sex diagnosis was possible in 122/139 pregnancies (88%) during our first 2 years and 96.7% (528/546) during the last 2 years of experience. The accuracy rate for fetal male gender identification increased from 91.7% during the first 2 years of TVS experience to 99.7% during the last 2 years of TVS experience, and the accuracy rate for female gender identification, increased from 93.3% to 100%, respectively, applying the above criteria and based on acquired experience of early fetal sex identification by TVS early in gestation. Early and precise determination of fetal sex is possible and might avoid invasive procedures such as amniocentesis.

Female↗
PubMed1993

Neurophysiological evaluation in detrusor instability.

Different and complex neuronal systems are involved in the control of continence. Detrusor overactivity has been divided by the International Continence Society into two functional subgroups: a) detrusor instability and b) detrusor hypereflexia. Only in the latter group has neurological damage been shown, but pathophysiological mechanisms are still unknown. In order to complete a full investigation of sensory and motor pathways 12 female patients affected by idiopathic detrusor instability (mean age 60.2 years; range 49-73) and 13 age-matched healthy women were studied. All patients were submitted to a subtracted cistometrogram (CMG), anal sphincter electromyography (EMG) with a bipolar coaxial needle, sacral reflex analysis after stimulation of the dorsal nerve of the clitoris, tibial and pudendal somatosensory evoked potentials, motor evoked potentials after magnetic cortical coil stimulation, and recording from anal sphincter and abductor brevis hallucis muscles. All patients had normal neurophysiological tests, and no significant differences between patients and controls could be seen. Our data confirms the absence of both clinical and subclinical damage of central sensory or motor pathways in detrusor instability; an alteration of suprasegmental mechanisms cannot be excluded.

Adult↗
PubMed2002

Sonic hedgehog signaling from the urethral epithelium controls external genital development.

External genital development begins with formation of paired genital swellings, which develop into the genital tubercle. Proximodistal outgrowth and axial patterning of the genital tubercle are coordinated to give rise to the penis or clitoris. The genital tubercle consists of lateral plate mesoderm, surface ectoderm, and endodermal urethral epithelium derived from the urogenital sinus. We have investigated the molecular control of external genital development in the mouse embryo. Previous work has shown that the genital tubercle has polarizing activity, but the precise location of this activity within the tubercle is unknown. We reasoned that if the tubercle itself is patterned by a specialized signaling region, then polarizing activity may be restricted to a subset of cells. Transplantation of urethral epithelium, but not genital mesenchyme, to chick limbs results in mirror-image duplication of the digits. Moreover, when grafted to chick limbs, the urethral plate orchestrates morphogenetic movements normally associated with external genital development. Signaling activity is therefore restricted to urethral plate cells. Before and during normal genital tubercle outgrowth, urethral plate epithelium expresses Sonic hedgehog (Shh). In mice with a targeted deletion of Shh, external genitalia are absent. Genital swellings are initiated, but outgrowth is not maintained. In the absence of Shh signaling, Fgf8, Bmp2, Bmp4, Fgf10, and Wnt5a are downregulated, and apoptosis is enhanced in the genitalia. These results identify the urethral epithelium as a signaling center of the genital tubercle, and demonstrate that Shh from the urethral epithelium is required for outgrowth, patterning, and cell survival in the developing external genitalia.

Animals↗
PubMed1996

Trypanosoma cruzi: paninfectivity of CL strain during murine acute infection.

A systematic study of the distribution of intracellular parasites in the organs and tissues of mice acutely infected (15 days) with the CL strain of Trypanosoma cruzi was performed. Almost all tissues and organs were parasitized with different intensities, including several epithelial cell types. In addition to striated, cardiac, and smooth muscles a very high parasitism of fat cells, pancreas, and genital adnexa was observed. A smaller number of parasites was found in all other structures studied except in highly vascularized structures such as in the penile corpora cavernosa, pulmonary and renal parenchyma, islets of Langerhans, hepatic sinusoids, and in atrial endothelium. This paper also shows, for the first time in the literature, the parasitism of milky spots, cornea epithelium, cornea stroma, retroorbital fibroblasts, seminal vesicles, and coagulative, Cowper's, urethral, preputial, sebaceous anal, and clitoris glands. The results indicated that CL strain is highly invasive, being able to infect cells derived from the three embryonic layers (ectoderm, mesoderm, and endoderm), suggesting that the paninfectivity may influence the outcome of immunological and pathological events.

Acute Disease↗
PubMed1995

Surgical therapy of vulvar cancer in pregnancy.

Squamous cell cancer of the vulva diagnosed and surgically treated during pregnancy is a rare event. Only a few cases have been described until the present. We report two additional women with Stage II and III disease. The first patient, who had a 5 x 2-cm ulcerated lesion under the clitoris was treated by radical anterior vulvectomy and bilateral groin dissection when 22 weeks pregnant. She had an uneventful pregnancy, was delivered by cesarean section, and is free of disease 39 months after initial surgery. The second patient, who had multifocal lesions with a maximal depth of 1.9 mm of tumor invasion underwent modified radical vulvectomy with bilateral groin dissection when 17 weeks pregnant. Because of a grossly positive groin lymph node, she underwent radiation therapy after cesarean section. She is alive without invasive cancer 28 months after diagnosis. Early histological diagnosis and early treatment are mandatory in the management of suspicious vulvar lesions during pregnancy.

Adult↗
PubMed1997

Prophylactic chemoradiation of inguinofemoral lymph nodes in patients with locally extensive vulvar cancer.

OBJECTIVE: Primary surgical resection of locally advanced squamous cancer of the vulva may compromise the integrity of important midline structures such as the anus, clitoris, urethra, and vagina. Chemoradiation (synchronous radiation and cytotoxic chemotherapy) has been used as alternative initial treatment which may serve as definitive management for some patients, or may reduce the scope and functional sequelae of subsequent surgery in others. Inguinofemoral node dissection is associated with substantial risk of both acute and late morbidity, prompting consideration of elective inclusion of groin nodes within the irradiated volume and deletion of subsequent groin surgery. Concern that disease relapse in the groins is potentially fatal suggested the prudence of formal outcome assessment of our recent experience with prophylactic treatment of clinically uninvolved groin nodes in the context of concurrent chemoradiation for locally advanced primary vulvar cancer. METHODS: A review was conducted of 23 previously untreated patients with locally advanced squamous cancer of the vulva (2 T2, 20 T3, 1 T4) and clinically uninvolved groin nodes (1969 FIGO stages 14 N0, 4 N1, and 5 N2 with negative node biopsies) who were treated since 1987 with chemoradiation administered to a volume electively including bilateral inguinofemoral nodes. These patients did not undergo subsequent groin surgery. RESULTS: With follow-up from 6 to 98 months (mean, 45.3 months; median, 42 months), no patient has failed in the prophylactically irradiated inguinofemoral nodes. No patient has developed lymphedema, vascular insufficiency, or neurological injury in a lower extremity, and no patient has experienced aseptic necrosis of a femur. CONCLUSIONS: Elective irradiation of the groin nodes in the context of initial chemoradiation for locally advanced vulvar cancer is an effective therapy associated with acceptable acute toxicity and minimal late sequelae. It constitutes a sensible alternative to groin dissection in this patient population.

Adolescent↗
PubMed1999

Epithelioid sarcoma of the vulva.

We report a case of a 23-year-old woman diagnosed as having an epithelioid sarcoma of the vulva. She was treated by a clitoris-sparing hemivulvectomy and lymph node sampling of the ipsilateral groin. Vulvar reconstruction was performed with a rectus abdominis myocutaneous flap. Four years after the operation there is no evidence of disease and the patient has a normal sex life. The English literature on this subject is reviewed with special attention to the biological behavior and therapeutic approach.

Adult↗
PubMed1981

Absence of H-Y antigen in an XY female with campomelic dysplasia.

We have studied a stillborn infant who had the clinical and radiographic characteristics of campomelic dysplasia. External and internal genitalia were those of a normal female, except for slight enlargement of the clitoris. Microscopic examination of the ovaries revealed some areas resembling immature dysgenetic testicular tissue. Karyotypes from lymphocyte and fibroblast cultures were 46,XY with a structurally normal Y chromosome and no evidence of mosaicism. H-Y antigen was not detected on the fibroblasts in repeated assays using Raji cells as target cells after absorption. The "sex- reversal" (chromosomal male Leads to phenotypic female) previously noted in patients with autosomal recessive campomelic dysplasia thus may be mediated through lack of detectable H-Y antigen on the cell surface. It appears that the mutation leading to campomelic dysplasia interferes with normal H-Y antigen expression.

Abnormalities, Multiple↗
PubMed1988

XY sex reversal syndrome in the mare: clinical and behavioral studies, H-Y phenotype.

An inherited genetic disorder causes XY embryos of the horse to develop as mares. On the basis of our study of 38 such mares, we have identified four grades or classes of XY sex reversal according to this scheme: class I, nearly normal female, of which some are fertile; class II, female with gonadal dysgenesis, normal mullerian development; class III, intersex mare with gonadal dysgenesis, abnormal mullerian development, enlarged clitoris; class IV, virilized intersex characterized by high levels of testosterone. In general, class I and class II mares were typed H-Y antigen-negative whereas class III and class IV mares were typed H-Y antigen-positive.

Animals↗
PubMed1977

A case of (13q;18q) translocation with proximal 13q monosomy.

A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris. Serum Ig-A and Ig-M levels were normal in our case.

Abnormalities, Multiple↗
PubMed1981

The hormone pattern in a case of arrhenoblastoma.

A case of ovarian arrhenoblastoma in a 14-year-old girl is reported. The patient presented with primary amenorrhea, severe diffuse hirsutism, moderate clitorial enlargement and slight decrease in breast size. Hormonal examinations revealed high plasma testosterone and androstenedione levels, normal plasma prolactin, drhydroepiandrosterone-sulphate, 17-alpha-hydroxyprogesterone, urinary 17 beta oestradiol, oestrone, FSH and LH. Androgen concentrations decreased under dexamethasone suppression test. Following tumor ablation menses occurred spontaneously and normal hormone patterns were observed.

17-Ketosteroids↗
PubMed1983

The relationship between mode of female masturbation and achievement of orgasm in coitus.

To determine the relationship between masturbatory and coital behavior, 117 middle-class female volunteers were classified into three styles of masturbatory behavior--direct, indirect, and nonmasturbators. Direct masturbation was defined as the direct digital manipulation of the clitoris or use of a vibrator. Indirect masturbation included all other methods of masturbation not defined as direct. The classification was done on the basis of responses to a questionnaire. Of the masturbators 70% reported no change in their masturbatory style from initial masturbatory experiences. No relationship was found between either ability to masturbate or masturbatory style and coital orgasmic capacity. It was also found that (a) nonmasturbators achieved orgasm in coitus via additional clitoral stimulation significantly less frequently than either direct or indirect masturbators and (b) direct masturbators have a significantly greater preference for clitoral, as opposed to vaginal, stimulation as a means of achieving orgasm. The results are interpreted within the context of possible deficiencies in the questionnaire and confounding between the ongoing psychological and biological processes occurring in sexual activity. Within these constraints, the findings support current methods of treatment for primary and secondary anorgasmia.

Adult↗
PubMed1978

Subjective sexual experience in college women.

A random sample of 100 undergraduate women were interviewed about their subjective sexual experience. Sexual sensations during masturbation, oral sex, intercourse, and intercourse with concurrent clitoral massage were summarized and differentiated. Sensations labeled "orgasm" by a majority of the subjects were identified, and the suggestion was made that experiences other than that outlined by Masters and Johnson may be considered orgasmic by women in a more general population. Some support was found for Singer and Singer's typology of orgasm at a subjective level. Most subjects who experienced multiple orgasms found them no more satisfying than single ones. Clitoral and vaginal orgasms may be distinguished subjectively, but no clear preference for one or the other emerged from a consensus of the subjects. Orgasm rate was significantly related (p less than 0.001) to satisfaction during intercourse and oral sex, but not during masturbation. Some evidence was found supporting the role of social learning in developing sensitivity in the clitoris and vagina and possibly the breasts.

Adolescent↗
PubMed1991

Development of male gender identity/role and a sexual orientation towards women in a 46,XY subject with an incomplete form of the androgen insensitivity syndrome.

Transsexualism and homosexuality have been theorized to originate in the male from insufficient androgenization of the brain. For verification of this hypothesis clinical science must rely on subjects with an abnormal prenatal/perinatal endocrine history. A case of a 33-year-old 46,XY subject with an incomplete form of androgen insensitivity syndrome (AIS) is presented. In adulthood the only genital sign of masculinization is a clitoris of 4 cm; the vagina is normal size. The diagnosis AIS was verified by androgen receptor studies. At birth there was confusion as to the sex of the newborn. Originally, the subject was assigned to the male sex, but this decision was reversed 5 days after birth and the subject was reared as a girl. At age 30 the subject applied for gender reassignment treatment to the male sex. Upon psychological evaluation the gender identity was unambiguously male and the sexual orientation was exclusively towards women. The estrogen feedback effect on LH, regarded by some as a marker of the sexual differentiation of the neuroendocrinium was negative before orchiectomy but positive after orchiectomy. Our observation demonstrates that in 46,XY subjects a male gender identity and a sexual orientation towards women can develop with a strikingly lower-than-normal level of biological action of androgens.

Androgen-Insensitivity Syndrome↗
PubMed2001

Pseudoexstrophy in a female child.

A six-year-old female patient presenting with a swelling in the infraumbilical part of the abdomen, bulging out on straining, was diagnosed to have pseudoexstrophy bladder. The urinary tract was normal. The patient had bifid clitoris. There was no other associated malformation. Surgical repair of abdominal wall defect was done successfully. A new classification of exstrophy variants is proposed.

Abdominal Muscles↗