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PubMedDate not supplied

[Anatomicopathological aspects of genital bilharziasis in women].

The localisations of the genital bilharziosis of the woman are not very known. However, they are responsible of many functional sequelae: pelvic aches, menstrual troubles, aberrant nidations, spontaneous abortions, permanent sterilities. From 43 anatomic taking investigated from 1971 to 1982 and from the literature they have collected, the authors successively study the localisations of the genital bilharziosis on ovary (21 %), uterine tube (16 %), uterine cervix (42 %), vulva, vagina and clitoris (21 %). They describe the histologic responsible lesions and their pathogenic mechanism. They dwell upon the fact that, in much cases, the eggs of Schistosoma haematobium, included in the tissues, are responsible of those anatomo-pathologic manifestations.

Abortion, Spontaneous↗
PubMed1983

[A case of true hermaphroditism].

The patient was a two years and seven months old, who was legally a female. She visited our University Hospital with the chief complaint of ambiguous genitalia. The hypertrophied clitoris was 13 mm in length and 11 mm in diameter. The external urethral orifice and vagina were observed separately. The testis-like mass was palpable in the right labium. She had a karyotype of 46XX . The Urinary excretion of 17 KS and pregnanetriol and serum 17 alpha-hydroxyprogesterone were within the normal range. Vaginography showed the vagina, uterus and left fallopian tube. At exploratory laparotomy, we found the uterus and left fallopian tube; the left and right gonads were in the intraperitoneal cavity and the inguinal canal, respectively. To build female characteristics, clitoroplasty was performed, the right gonad was removed the testis-like portion of the left gonad was resected, and the ovary-like portion in the left gonad was biopsied. Both gonads were confirmed to be ovotestis histologically.

17-Hydroxycorticosteroids↗
PubMed1978

A micromorphological study of the female copulatory organs of buffaloes in Egypt (Bos bubalus L.).

Samples from the different regions of the external genitalia of the Egyptian female buffalo, at different ages and different periods of the oestrus cycle, were examined microscopically after different strains. The walls of both vagina and its vestibule comprised mainly 3 coats; mucosa, musculosa and adventitia. The epithelia lining undergoes changes according to the period of the cycle. The circular muscle layer of vagina splits into 2 in the ventral wall and sandwitches in between a longitudinal layer and reunites oncemore in the dorsal wall. The lamina propria of the vestibula contains the following glandular structures: a) intraepithelial mucussecreting cells, b) large subepithelial glandular masses lying 1/2 cm caudal to hymen and extending for 3 cm caudally and 1 cm laterally in both dorsal and ventral walls, taking the form of compound tubuloaveolar muco-serous glands, and c) small glandular masses lying in the ventral median plane from the region of the fossa clitoridis and gradually disappearing cranially towards the suburethral diverticulum, taking the form of compound alveolar mucous glands. The clitoris is wholly formed of erectile tissue with smooth muscle fibers at its root and fat cells at its tip (glans). However, the latter cells were absent from calves.

Animals↗
PubMed1995

Delayed diagnosis of congenital adrenal hyperplasia in a premature female infant.

A preterm female infant was diagnosed with congenital adrenal hyperplasia after the first month of life. Electrolyte abnormalities and prominent clitoris were originally attributed to the prematurity of the infant. Congenital adrenal hyperplasia was confirmed when the abnormalities persisted. Delay in diagnosis can be prevented with the installation of newborn screening programs.

Adrenal Hyperplasia, Congenital↗
PubMed1994

[Classical and incomplete androgen insensitivity syndromes].

On the basis of investigation and observation of 41 individuals with androgen insensitivity syndrome (AIS) author confirms that at the phenotypic female and genotypic male patients the value of testosterone in plasma is 6.4 +/- 1.6 mg/ml, corresponding to that characteristic to healthy males. In the classical form there is absent or very scarce pubic hair in 100%, normal development of breasts in 97% of cases, blind vagina of mean length 5.0 +/- 2.3 cm in 97% of cases and inguinal hernia in 30% of cases. In the incomplete form of AIS normal breasts occurs in 62.5%, public hair in 50%, complete absence of vagina in 62.5%, blind vagina of mean length 2.5 cm in 37.5%, inguinal hernia in 75% and hypertrophy of clitoris of mean length 2.0 +/- 1.0 cm in 62.5%, what distinguishes this form of the syndrome from classical form. In incomplete form surgery for inguinal hernia in 87.5% is necessary. In 37.5% artificial vagina has to be created. Classical form occurs in 80.5% and incomplete form in 19.5%. The malignity of the gonads in the discussed syndrome is rare. Castration should be avoided before the patient attains full sexual maturity. Normal value at testosterone level characteristic for men suggests that the lack of sensitivity to androgens of the target cells is the main cause of the disease and is definitively caused by mutations in the androgen receptor gene.

Adolescent↗
PubMed1994

Sculpturing the neoclitoris in vaginoplasty for male-to-female transsexuals.

One of the goals of vaginoplasty for transsexuals is the construction of an aesthetically appealing female perineum. Cosmetic considerations imply the creation of a clitoris-like structure ventral to the urethral orifice. A review of the scarce references on neoclitoroplasty in the literature on vaginoplasty is given. In our hospital, the neoclitoris is usually sculptured to its final appearance during the actual vaginoplasty, employing a free composite graft of the tip of the penile glans to cover the shortened dorsal neurovascular bundle. From the review of the literature and from our experience one may conclude that our technique presents hardly any complications and leads to acceptable results, both functionally and cosmetically. We consider transpositioning of the glans on its long dorsal neurovascular pedicle a technique with too high a risk.

Adolescent↗
PubMed1993

Clitoroplasty for clitoromegaly due to adrenogenital syndrome without loss of sensitivity.

For preservation of postoperative sensitivity of the glans clitoris, clitoroplasty for clitoromegaly due to adrenogenital syndrome is reported. The operative technique includes the removal of ventral corporal tissue, taking care to avoid damage to the dorsal neurovascular bundle. A small lump of glandular tissue, which is connected with the neurovascular bundle, is left over and affixed to the pubic bone. Postoperative appraisal of patients in whom this technique has been applied is satisfactory. However, precise assessment of glandular sensation is not possible because of the patients' young ages. Follow-up investigation at puberty is necessary for a final, proper appraisal.

Adrenal Hyperplasia, Congenital↗
PubMedDate not supplied

Clitoral and penile sizes of full term newborns in two different ethnic groups.

Standards of penile and clitoral sizes are useful for diagnosis of genital abnormalities. In order to verify whether ethnicity has an effect on the size of external genitalia in newborns, 570 full term infants, Jews (221) and Bedouins (349), at the neonatal department of the Soroka Medical Center were examined. Clitoral length, the distance between the center of the anus to the fourchette (AF) and the distance between the center of the anus and the base of the clitoris (AC) were measured, and the AF/AC ratio was calculated for the females. Penile length was measured in the males. Significant differences in clitoral length (12.6%) between the Jewish group (5.87 +/- 1.48 mm) and the Bedouin group (6.61 +/- 1.72 mm) (p < 0.01) and in the ratio of AF to AC between the two ethnic groups (p < 0.01) were found. To the best of our knowledge, our study is the first to report ethnic differences in genital sizes of newborns.

Arabs↗
PubMed1976

The effect of neonatal treatment of male mice with antiandrogens and of females with androgens on the development of the os penis and os clitoridis.

The os penis in mice and rats is composed of a proximal intramembranous and endochondral osseous element and a distal cartilaginous, ossifying element. Female mice, but not rats, have a small os clitoridis which corresponds to the intramembranous part of the proximal element of the os penis. In mice of either sex a dense mesenchymatous formation ventral to the urethra is the anlage for the bones of the external genitalia. In the early postnatal period the proximal part of the os penis develops as bone at the outer and as cartilage at the basal end of the anlage, while in females a minute focus of ossification differentiates into the small os clitoridis without passing through a cartilaginous phase. The distal element of the os penis is formed later than the proximal rod and grows at a slower rate. Neonatal treatment with an antiandrogen inhibits the increase in size and calcification of the os penis. Neonatal castration is an even more effective inhibitor. Neonatal treatment with testosterone or dihydrotestosterone, but not with oestradiol, stimulates the growth of the bony proximal os clitoridis, but induces only a rudimentary collagenous distal element. The differences between mice and rats in the response of the tissues of the clitoris to androgenic treatment are discussed, particularly as regards the differentiation of proximal and distal elements.

Androgens↗
PubMed1998

[Disorders of sex development in dogs].

In two prepubertal dogs of female phenotype, a clitoral enlargement with a penile structure leading to recurring inflammation of the vagina was diagnosed. Progesterone, oestrogen and testosterone serum concentrations were radioimmunologically analysed. The histology of the penile structure, the gonads and the uterus was made via a hematoxylin-eosin staining method. The chromosome constitution being analysed by the method of Basur and Gilman (1964) was 2n = 78,XX. Regarding all results of this investigation the diagnose was XX-male. The development of this sexual disorder is discussed. The surgical removal of gonads and uterus and the excision of the enlarged clitoris is described.

Animals↗
PubMed1975

Turner-mongolism polysyndrome. Review of the first eight known cases.

To date, a total of eight cases of the Turner-mongolism polysyndrome have been recognized. The clinical manifestations included retarded growth (resulting in a small and infantile appearance), with shield-like chest, poorly developed breasts, absent body hair, brachycephaly, short neck with foldings and low hairline, oblique eyes with epicanthal folds, squat nose, scrotal or normal tongue, abnormal hard palate (high or cleft), short hands and feet, frequent cubitis valgus, normal clitoris (may be either hypoplastic or peniform), mental retardation, and the XO/G+ karyotype, mosaic for XO in most instances. At this time, a single cause for all cases of the double aneuploidy is not known.

Abnormalities, Multiple↗
PubMed1999

Two cases with interstitial deletions of chromosome 2 and sex reversal in one.

We present two children with de novo interstitial deletions of the long arm of chromosome 2 (karyotypes 46,XY, del(2)(q31.1q31.3) and 46,XY, del(2)(q24.3q31.3), respectively). The first child had severe learning difficulties, growth retardation, unilateral ptosis, small palpebral fissures, a cleft uvula, and bilateral cutaneous syndactyly of the second and third toes. Despite her male karyotype, she had female external genitalia with hypoplasia of the clitoris and labia minora. This is the first reported case of feminization of the external genitalia in a genotypic male with an interstitial deletion of chromosome 2q31 and adds to the growing amount of evidence for a gene involved in sex determination in this chromosome region. The second child had severe mental and growth retardation, ptosis, down-slanting palpebral fissures, low-set ears, micrognathia, finger camptodactyly, and brachysyndactyly of the second to fifth toes. The clinical manifestations associated with deletions of 2q31 to 2q33 are similar to those found with proximal deletions at 2q24 to 2q31 and of band 2q24, suggesting that the phenotype may result from haploinsufficiency for one or more genes located at 2q31. Microsatellite marker studies showed that both children had paternally derived deletions that included the HOXD gene cluster and the EVX2, DLX1, and DLX2 genes known to be important in limb development.

Abnormalities, Multiple↗
PubMed1997

Expression and regulation of steroid 5 alpha-reductase in the genital tubercle of the fetal rat.

The genital tubercle is a bipotential anlage that can develop into a penis or a clitoris. Formation of the penis requires synthesis within the tubercle of the androgen dihydrotestosterone by steroid 5 alpha-reductase isozymes. Isozyme 1 mRNA and protein were present in epithelial cells, whereas isozyme 2 transcripts were present in mesenchymal cells of developing genital tubercles from day 17, 19, and 21 rat embryos. These expression patterns were observed in both uncommitted anlagen and in committed male or female structures. Androgens did not significantly influence levels of 5 alpha-reductase mRNAs or affect their cellular distributions. Together with genetic data, the results implicate the mesenchyme as the crucial cell type in formation of the male external genitalia.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed1993

Aggressive chemotherapy, organ-preserving surgery, and high-dose-rate remote brachytherapy in the treatment of rhabdomyosarcoma in infants and young children.

BACKGROUND: External beam radiation therapy often is avoided in the treatment of rhabdomyosarcoma (RMS) in young children because of the long-term sequelae. Conventional brachytherapy can reduce these problems, but its use is limited in young children because of radiation exposure to parents and care-givers. This is the first reported use of high-dose-rate remote brachytherapy (HDR) to treat RMS in young children. METHODS: Seven young children with RMS were treated from January 1990 through September 1991 with multiagent chemotherapy, organ preserving surgery, and HDR. The primary tumor sites included the tongue, buccal mucosa, chest wall, vagina, and clitoris. A minimum peripheral dose of 36 Gy HDR was administered in 12 fractions (twice a day) at 3 Gy per fraction for a period of 3 days. The treatment was given on an outpatient basis without requiring prolonged patient sedation or immobilization. Each treatment lasted 2-5 minutes. RESULTS: All seven children are alive and without evidence of tumor with a median follow-up of 30 months (range, 18-35 months) from diagnosis. The treatments have been reasonably well tolerated with some acute skin toxicity. There has been relatively good organ growth and function during this short follow-up period. CONCLUSION: The use of HDR radiation in these patients eliminated radiation exposure to care-givers and permitted constant nursing care and interaction among the parents, nursing personnel, and child. Treatments can be given on an outpatient basis, without requiring prolonged patient sedation or immobilization. Local control of tumor with preservation of organ function was achieved. HDR in young children should be restricted to controlled clinical trials until long-term morbidity and efficacy results are obtained from pilot studies.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1993

Malignant paraganglioma presenting as Cushing syndrome with virilism in childhood. Production of cortisol, androgens, and adrenocorticotrophic hormone by the tumor.

BACKGROUND: A 12-year-old girl with intractable retroperitoneal paraganglioma experienced increased appetite, acne, obesity, "moon face," and enlargement of the clitoris during the course of the tumor. Plasma cortisol, serum testosterone, and dehydroepiandrosterone sulfate (DHEA-S) levels were increased to 34.1 micrograms/dl, 2.0 ng/ml, and 6.628 ng/ml, respectively. Adrenocorticotrophic hormone (ACTH) levels were not increased, and results of dexamethasone suppression tests were negative. Her condition was diagnosed as Cushing syndrome with virilism. Plasma cortisol levels were increased to a level of 107.1 micrograms/dl before death. METHODS: Tumor samples were obtained at the time of autopsy. The concentrations of cortisol, androgens, ACTH, and catecholamines were assayed in the tumor extracts. The indirect immunoperoxidase procedure was performed on fixed tissues for cortisol, DHEA-S, testosterone, and ACTH. RESULTS: Extracts of the tumor masses contained steroid hormones: the amount of immunoreactive cortisol was 1.64 micrograms/g wet weight; the amount of immunoreactive testosterone was 25.60 ng/g wet weight; immunoreactive DHEA-S, 579.00 ng/g wet weight; and immunoreactive ACTH, 891.00 pg/g wet weight in the metastatic mass of the lung. Immunohistochemically, immunoreactive cortisol, testosterone, and DHEA-S were detectable in the tumor cells. The adrenal gland was atrophic. CONCLUSIONS: The patient is the first reported with malignant paraganglioma with the capacity to produce cortisol, androgens, and ACTH.

Adrenocorticotropic Hormone↗
PubMed2001

Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect.

Exstrophy of the bladder (EB) and exstrophy of the cloaca (EC) are generally recognizable as distinct clinical entities. In patients with EB, the posterior bladder wall is exposed through a midline defect of the abdomen. The umbilicus is inferiorly displaced and located close to the superior margin of the exstrophic bladder. Genital abnormalities are common in boys and girls who may present epispadias and a small, split phallus or a split clitoris, a bifid uterus, and a duplicate or exstrophic vagina. In contrast to classic EB, EC is commonly associated with omphalocele, spinal defects, and incompletely formed external genitalia and is always associated with imperforate anus. Some authors state that EC and EB constitute two distinct disorders, but others consider them part of a "continuum," representing different levels of severity within the same spectrum. The use of the acronym OEIS to refer to the combination of omphalocele, exstrophy, imperforate anus, and spinal defects, in our opinion, has not helped to clarify the clinical definition, pathogenesis, or cause of this multiple congenital anomaly (MCA) pattern, mostly because the term makes no distinction between EC or EB. Here we present the epidemiological analysis of a group of characteristics in infants with EC and infants with EB to determine if they constitute two different entities. We also analyze if the different combinations of omphalocele, imperforate anus, and spinal defects are more frequent in infants with EC than in infants with MCA patterns other than EC and EB. The prevalence in our data for EC was 1:200,233 live births and 1:35,597 for EB. The clinical analysis indicated that the study defects (omphalocele, spine defects, spina bifida, and imperforate anus) tend to occur together in the same child with a higher frequency if the child has the EC defect than in infants with MCA patterns that did not include EC or EB. Our findings of low birth weight, twinning, single umbilical artery, and preferentially associated malformations suggest that EC is the result of damage occurring very early in development and that EC and EB are two different expressions of a primary polytopic developmental field defect.

Abnormalities, Multiple↗
PubMed1980

The G syndrome--additional observations.

We are reporting the second lethal case of G syndrome occurring in a female. The developmental defects in this patient included posteriorly angulated auricles, bifid tip of tongue with a long frenulum, hypoplasia of the epiglottis and larynx, rocker bottom feet, and hypertrophied labia majora and clitoris. Additional anomalies not previously reported in the G syndrome were circumvallate placenta, and incompletely perforated hymen.

Abnormalities, Multiple↗
PubMed1980

Multiple pterygium syndrome.

We describe a sporadic case and four sibs from a consanguineous Nicaraguan family affected with the multiple pterygium syndrome. Clinical manifestations included normal intelligence; short stature; pterygia of neck, axillary, antecubital, popliteal, digital, and intercrural areas; multiple joint contractures with a crouched stance; a flat, sad, motionless facial appearance; and cleft palate. Males had small penis and scrotum and cryptorchidism; females had apparent aplasia of labia majora and small clitoris. Skeletal anomalies included fusion of cervical vertebrae, scoliosis, flexion contractures of fingers and "rocker-bottom" feet with vertical talus. This review documents genetic heterogeneity: Autosomal recessive inheritance in many cases, autosomal dominant determination in others, and sporadic occurrence.

Abnormalities, Multiple↗