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A 12-month study of Culicoides in Bulloch County, Georgia, U.S.A., revealed that twelve of 23,859 specimens (0.05%) of C.stellifer were intersexes as a result of being parasitized by mermithid nematodes. Of these, eleven had male genitalia and female type antennae and one had female genitalia with male type antennae.
The results of the ultrasonographic determination of fetal gender in utero in 722 fetuses (13-35 weeks' gestation) are described, demonstrating that fetal genitalia can be seen in 60.5 per cent of those examined before the eighteenth week, and in 100 per cent of those examined twice or once after 20 weeks of gestation. All errors (3.04 per cent) of gender assignment occurred before the twenty-fourth week. When the fetus was examined for the first time at 17 weeks, the genitalia were visualized and correctly diagnosed in 282 males and 155 females; nine males and 13 females were incorrectly diagnosed. Ultrasonographic determination of fetal gender in utero is an integral part of the prenatal diagnosis of sex maldefinition, testicular feminization, and campomelic dysplasia. It has proved to be a reliable marker in determining whether each sac has been sampled in multiple pregnancies (when each fetus is in a different sac) if ultrasonographically assigned sex per twin corresponds to its karyotype. The determination of fetal gender in utero by ultrasonography allows for gender selection; some of its ethical implications are considered.
This study presents an experience with diagnosis and management of external genital elephantiasis in 18 children in the age range of 3 to 15 years. All patients underwent surgical treatment. The type and scope of surgery depended on the extent and severity of elephantiasis. A total of 21 operations were done. Long-term results were evaluated in these 13 patients at 1 to 22 years. The evaluation included physical appearance of the genitalia, scars, secondary deformities, penile and testicular size, the presence of erections and menstruation. Adults of mature ages were evaluated for fertility and reproductive status. Long-term results were good in all 13 patients. This analysis suggests that early radical surgical treatment of children with congenital elephantiasis of the external genitalia enables a normal anatomic and functional genital development and averts severe local and systemic disorders.
Classical congenital adrenal hyperplasia (CAH) results from an inherited enzymatic defect in cortisol synthesis and more than 90 per cent of cases are due to 21-hydroxylase deficiency. The androgen excess associated with this condition typically results in ambiguous external genitalia in affected females. It has been shown that prenatal treatment with dexamethasone is successful in preventing or reducing genital ambiguity in affected females. Rather than treating with dexamethasone, some couples choose to terminate the pregnancy when an affected fetus is prenatally diagnosed. We report a female with classical CAH who was born with normal external genitalia, although maternal treatment with dexamethasone did not begin until 16 weeks' gestation.
Antley-Bixler syndrome (ABS) is a rare multiple anomaly syndrome comprising radiohumeral synostosis, bowed femora, fractures of the long bones, premature fusion of the calvarial sutures, severe midface hypoplasia, proptosis, choanal atresia, and, in some, ambiguous genitalia. Of fewer than 40 patients described to date, most have been sporadic, although reports of parental consanguinity and affected sibs of both sexes suggests autosomal recessive inheritance in some families. Known genetic causes among sporadic cases of ABS or ABS-like syndromes are missense mutations in the IgII and IgIII regions of FGFR2, although the assignment of the diagnosis of ABS to such children has been disputed. A third cause of an ABS-like phenotype is early in utero exposure to fluconazole, an inhibitor of lanosterol 14-alpha-demethylase. The fourth proposed cause of ABS is digenic inheritance combining heterozygosity or homozygosity for steroid 21-hydroxylase deficiency with effects from a second gene at an unknown locus. Because fluconazole is a strong inhibitor of lanosterol 14-alpha-demethylase (CYP51), we evaluated sterol metabolism in lymphoblast cell lines from an ABS patient without a known FGFR2 mutation and from a patient with an FGFR2 mutation and ABS-like manifestations. When grown in the absence of cholesterol to stimulate cholesterol biosynthesis, the cells from the ABS patient with ambiguous genitalia but without an FGFR2 mutation accumulated markedly increased levels of lanosterol and dihydrolanosterol. Although the abnormal sterol profile suggested a deficiency of lanosterol 14-alpha-demethylase, mutational analysis of its gene, CYP51, disclosed no obvious pathogenic mutation in any of its 10 exons or exon-intron boundaries. Sterol metabolism in lymphoblasts from the phenotypically unaffected mother was normal. Our results suggest that ABS can occur in a patient with an intrinsic defect of cholesterol biosynthesis at the level of lanosterol 14-alpha-demethylase, although the genetic nature of the deficiency remains to be determined.
We report on a 46,XY newborn infant with Smith-Lemli-Opitz (SLO) syndrome with female external genitalia, intraabdominal testes with epididymides and deferent ducts and a normally shaped uterus and vagina. Polydactyly, cleft palate, and several internal organ malformations were also present, and the patient died shortly after birth. Data on six reported male infants with SLO syndrome and female external genitalia suggest a correlation between degree of genital involvement and overall degree of severity. Scoring systems to quantify overall degree of severity (SLO score) and degree of genital involvement in males (genital score) were devised and applied to 122 reported cases from the literature. Statistical analyses showed a unimodal distribution of the SLO severity scores, and positive correlations between the SLO score and the genital score in males, the presence of polydactyly, and the presence of cleft palate. In 19 multiplex families the affected sibs were generally similar in their SLO scores. The above analyses suggest that the wide phenotypic variability in the SLO syndrome is determined by variable expressivity of the same entity as opposed to genetic heterogeneity. The observed phenotypic correlations naturally determine that males with complete feminization are among the more severe patients and tend to have polydactyly and cleft palate.
We describe 2 male maternal first cousins, 7 years and 7 months old, with a previously unreported pattern of malformations including lax skin, joint hyperextensibility, umbilical and inguinal herniae, craniosynostosis, pectus carinatum, several abnormally shaped vertebrae, enamel hypoplasia and hypocalcification of the teeth, facial abnormalities and wide webbed neck, ambiguous genitalia, multiple nodular liver tumors, and mild psychomotor retardation. The occurrence of 2 male children related through their mothers suggests the possibility of X-linked recessive inheritance. It is proposed to call this disorder the SCARF syndrome (skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormalities).
We report on a 46,XY infant with mandibulofacial dysostosis, preaxial and postaxial limb anomalies, urethral stenosis with left hydronephrosis, and ambiguous genitalia with phallic/scrotal transposition. This infant with atypical pre/postaxial acrofacial dysostosis (AFD) is the first to be reported with ambiguous genitalia. The acrofacial dysostoses are a heterogenous group of disorders characterized by varying degrees of mandibulofacial dysostosis with acral limb defects and may represent a polytopic field defect. These disorders have generally been separated on the basis of their limb anomalies into preaxial, postaxial, lethal, and atypical types. Most cases are sporadic, but various causes have been postulated including autosomal dominant and recessive inheritance, a chromosome 2q duplication, and a possible case of diabetic embryopathy. We review the nonfacial/limb anomalies in other cases of AFD and compare them to those of our case, thereby expanding the spectrum of anomalies in these disorders.
Abnormal recombination between the X and Y chromosomes during meiosis, occurring outside the pseudoautosomal region, can result in translocation of the SRY gene from the Y to the X chromosome, and consequently in abnormal sexual differentiation, such as the development of 46,XX males or true hermaphroditism. In this report we present clinical, cytogenetic, and molecular-cytogenetic data of a patient with ambiguous genitalia and true hermaphroditism, who had a unique mosaic karyotype, comprising three different cell lines: 46,XX(SRY+), 45,X(SRY+), and 45,X. The mosaic karyotype of our patient probably represents two different events: abnormal recombination between the X and Y chromosomes during paternal meiosis, and postzygotic loss of one of the X chromosomes. Replication studies demonstrated that in 80% of the XX cells, the SRY sequence was located on the active X chromosome. This finding suggests nonrandom X inactivation and, together with the presence of the SRY gene, explains the male phenotype of our patient. On the other hand, the presence of the 45,X cell line may have contributed to genital ambiguity. We conclude that fluorescence in situ hybridization (FISH) analysis with SRY probes is highly recommended and allows accurate diagnosis and optimal management in cases of 46,XX hermaphroditism and ambiguous genitalia.
The external genitalia of four adult female pygmy chimpanzees (Pan paniscus) were examined during a 2-year period. It was found that the labia majora are retained in adults of this species and that, when tumescent, the labia minora effectively relocate the frenulum and clitoris so that they point anteriorly between the thighs. When detumescent, the configuration of the labia minora and clitoris resembles that of immature common chimpanzees (P. troglodytes). It is suggested that the simple, structural relocation of the clitoris from the normal condition noted in adult P. troglodytes makes possible the homosexual, intergenital rubbing observed in P. paniscus, when ventroventral juxtaposition of the individuals permits eye-to-eye contact. In addition, this change probably increases sexual stimulation of the female during heterosexual, ventroventral copulations. The possibility of intense, face-to-face sexual interactions has been achieved by P. paniscus without the evolution of bipedalism and the consequent reorientation of the genitalia seen in Homo sapiens.
The external genitalia of one perimenarcheal and five adult female white handed-gibbons (Hylobates (H.) lar) were examined to clarify their gross anatomy. It was found that the vulval structures were complex and exhibited inter-individual variation in arrangement. This complexity appears to result from an ontogenetic process by which the tissues of the vaginal rim (the labia minora) bud-off and extrude extensions toward the vagina immediately prior and subsequent to menarche. Two of these lobular structures surround the urethral meatus and constitute a urethral eminence. The tissues of the vulva, excluding the clitoris with associated prepuce and frenulum and vestigial labia majora, undergo cycles of tumescence and detumescence during intermenstrual intervals. The complex form of the external genitalia and the presence of a swelling cycle are unusual for a monogamous species, are contrary to current applications of sexual selection theory, and raise questions about the significance of mate choice in hominoid evolution.
This paper describes the ultrastructure of a sensory neuron found in the extraocular photoreceptive site on the butterfly genitalia. Our previous studies have shown that there are two pairs of the photoreceptive sites in a butterfly (four per individual). Each photoreceptive site is recognizable by a transparent area in the pigmented cuticle of the genitalia. From the nerve that extends from the transparent cuticle to the last abdominal ganglion, a sustained train of single unit spikes can be recorded in response to a light flash. The single unit spikes disappear when the transparent cuticle is covered, thus indicating that a single photoreceptor exists close to it. Here, we examined complete serial semithin sections of plastic-embedded photoreceptive sites of both male and female, and observed an ovoid structure close to the transparent cuticle. The structure contained the cell body of a sensory neuron whose axon was in the nerve branch from which the photoresponse had been recorded. Further electron microscopy revealed that the cell body extended a few distal processes that protrude tubular membrane from the tip, forming a structure resembling the phaosome (from Greek; phaos = light, some = body) which was first described in the earthworm dermal photoreceptors. The sensory neuron was also found in a surgically isolated nerve-photoreceptor preparation that responded to the light. We therefore propose that the phaosome-containing sensory neuron is the butterfly genital photoreceptor.
Cytogenetic investigation of a 4-year-old boy with ambiguous external genitalia revealed a 46,XY,r(9)(p2q3) complement. The patient displayed some phenotypic characteristics common to other reported r(9) cases, in addition to ambiguous external genitalia.
Complete masculinisation of the external genitalia (type V of Prader classification) is reported in two siblings with normal internal female genitalia, normal ovaries and a 46,XX chromosome constitution in different cell lines without any detectable source of exposure to androgen during pregnancy.
Burns of the female genitalia and perineum mostly occur in connection with more extensive thermal injuries to the trunk and lower extremities. Isolated burns to the vulva are very unusual because this area is anatomically well-protected. A few reports in the literature describe injuries due to bizarre accidents and now obsolete techniques. The management of these injuries, possible complications, prognosis and long-term results are discussed following a case report of a 28-year-old woman who sustained extensive deep dermal burns to her external and internal genitalia in a suicide attempt involving a firework.
An infant with ambiguous genitalia was found to have a karyotype 45,X/46,X,r(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) using G-banding, C-banding and FISH. Examination of the genitalia revealed a phallus measuring 1.5 cm in length and 0.5 cm wide with perineal orifice. Subtle phenotypic features consistent with Turner syndrome were not present. Genital ultrasonography revealed the presence of an infantile uterus. Endoscopy of the vagina, uterus and cervix appeared normal.
Dog bites to the external male genitalia occur infrequently. We present 4 new cases and review 4 others described previously. Victims tend to seek medical care quickly. Thus, morbidity is directly related to the severity of the initial wound and delayed infectious complications appear to be minimal. Guidelines for management include irrigation, debridement as necessary, empiric antibiotics, consideration of tetanus and rabies immunization, and primary wound closure or surgical reconstruction. The differences between dog bites and human bites to the genitalia--primarily interval to presentation and subsequent likelihood of infection--are summarized. Measures to prevent dog bites are discussed.
Gender assignment in the newborn with ambiguous genitalia poses a dilemma for the parents and physician, even if the infant has a normal 46XX or 46XY karyotype. In general, female pseudohermaphrodites are reared as female subjects, since they can undergo reconstruction to appear as phenotypic female subjects and they may even be able to bear children. Male pseudohermaphrodites, patients with mixed gonadal dysgenesis and male patients with a micropenis may not be so straightforward, and proper gender assignment in these infants may be difficult. A unified surgical approach to early reconstruction of the external genitalia in these patients, who are to be reared as female subjects, has been developed. Essential to this perineal reconstruction are phallic reduction and recession in which erectile tissue is removed with preservation of the neurovascular bundles and glans, creation of labia minora from flaps of phallic skin and foreskin, a labioscrotal Y-V plasty to produce normal-appearing labia majora and construction of a neovagina with a perineal flap. If the patient is a male pseudohermaphrodite or an infant with a micropenis creation of the vagina is deferred until late adolescence or young adulthood. In other patients in whom the vagina enters the urethra or urogenital sinus proximal to the external sphincter a pullthrough vaginoplasty is performed when the child is 2 to 3 years old. If the vaginal entry is distal to the external urinary sphincter a flap vaginoplasty is performed at the same time as the phallic reduction, and creation of the labia minora and labia majora during infancy. Ten patients (4 with the adrenogenital syndrome, 2 male pseudohermaphrodites, 2 genetic male patients with a micropenis, 1 with mixed gonadal dysgenesis and 1 true hermaphrodite) have undergone reconstruction with this composite procedure. All 10 patients have had a successful cosmetic and early functional result.