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PubMedDate not supplied

[Anomalies of the genitalia and in sex differentiation].

Out of four biological sexes (male, female, bisexuality, asexuality) world legislation acknowledges only two. Therefore, hermaphrodites and eunuchs have either male or female documents. To determine human sexual anomaly, it is necessary to define genetic (chromosomal), gonadal (hormonal), phenotypic, psychological and legal sexes. True hermaphroditism must be distinguished from a false one: true hermaphrodites have both female and male gonads (or gonadal tissue), false hermaphrodites are unisexual, but their sex organs resemble those of the opposite sex. Five degrees of masculinization of the external genitalia in false female hermaphrodites are specified. In masculinization degree IV female sex organs look like genitalia of males suffering from perineoscrotal hypospadias with unaffected urogenital sinus and cryptorchidism. Feminization of male external genitalia comprises three anomalies: perineoscrotal hypospadias, unaffected urogenital sinus and cryptorchidism. Three cases are described: a girl with masculinization of the external sex organs of the 5th degree, a 7-year-old child with true hermaphroditism and gonadal tumor, a true hermaphrodite aged 22 surgically treated to correct the sex to be a male.

Adult↗
PubMed1997

Diagnostic evaluation and management of the child with ambiguous genitalia.

When it is first noted in the newborn nursery that a child is born with ambiguous genitalia, it can be very upsetting and confusing for parents, as well as challenging for pediatricians and nursing staff. In this article, I hope to clarify the rather complex topic of ambiguous genitalia and its various causes. I will also review normal genital development, as well as the medical and surgical management of the various forms of ambiguous genitalia.

Disorders of Sex Development↗
PubMed2002

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia is a newly recognized syndrome responsible for a severe neurological disorder of neonatal onset in boys. Based on the observations of 3 new cases, we confirm the phenotype in affected boys, describe additional MRI findings, report the neuropathological data, and show that carrier females may exhibit neurological and magnetic resonance imaging abnormalities. In affected boys, consistent clinical features of X-linked lissencephaly with absent corpus callosum and ambiguous genitalia are intractable epilepsy of neonatal onset, severe hypotonia, poor responsiveness, genital abnormalities, and early death. On magnetic resonance imaging, a gyration defect consisting of anterior pachygyria and posterior agyria with a moderately thickened brain cortex, dysplastic basal ganglia and complete agenesis of the corpus callosum are consistently found. Neuropathological examination of the brain shows a trilayered cortex containing exclusively pyramidal neurons, a neuronal migration defect, a disorganization of the basal ganglia, and gliotic and spongy white matter. Finally, females related to affected boys may have mental retardation and epilepsy, and they often display agenesis of the corpus callosum. These findings expand the phenotype of X-linked lissencephaly with absent corpus callosum and ambiguous genitalia, may help in the detection of carrier females in affected families, and give arguments for a semidominant X-linked mode of inheritance.

Adult↗
PubMed2006

Cryptic female exaggeration: the asymmetric female internal genitalia of Kaliana yuruani (Araneae: Pholcidae).

Males of the Venezuelan pholcid spider Kaliana yuruani have unique genitalia, with the procursi about six times as long as usual in the family. The present article describes the previously unknown female, searching for a morphological correlate in the female genitalia to the male's exaggeration. Reconstruction of histological serial sections reveals an internal female complexity that is unequalled in pholcid spiders. An intricate system of ducts and folds is arranged in an asymmetric way, making this the third known case of genital asymmetry in spiders. The term "cryptic female exaggeration" is used in analogy to cryptic female choice, pointing to the fact that from the outside, the female genitalia do not appear unusual. I propose that cryptic female exaggeration may be relatively common in copulatory structures if male exaggerations need to be evaluated according to the female choice by mechanical fit model. Finally, the evolution of genital asymmetry in spiders is contrasted with that in insects.

Animals↗
PubMed2005

Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3-->qter) and partial trisomy 18q (18q23-->qter) in a fetus associated with cystic hygroma and ambiguous genitalia.

OBJECTIVES: To present the prenatal diagnosis and molecular cytogenetic analysis of a fetus with nuchal cystic hygroma and ambiguous genitalia. CASE AND METHODS: Amniocentesis was performed at 16 weeks' gestation because of the abnormal fetal sonographic finding of a large septated nuchal cystic hygroma. Genetic amniocentesis revealed a terminal deletion in the long arm of chromosome 10. The paternal karyotype was subsequently found to be 46,XY,t(10;18)(q25.3;q23). The maternal karyotype was normal. The pregnancy was terminated. A hydropic fetus was delivered with a septated nuchal cystic hygroma and ambiguous genitalia. Fluorescence in situ hybridization (FISH), microarray-based comparative genomic hybridization (CGH), and polymorphic DNA markers were used to investigate the involved chromosomal segments. RESULTS: FISH study showed absence of the 10q telomeric probe and presence of the 18q telomeric probe in the derivative chromosome 10. Microarray-based CGH analysis showed loss of distal 10q and gain of distal 18q. Polymorphic DNA marker analysis determined the breakpoints. The fetal karyotype was 46,XY,der(10)t(10;18)(q25.3;q23)pat. The chromosome aberration resulted in partial monosomy 10q (10q25.3-->qter) and partial trisomy 18q (18q23-->qter). CONCLUSIONS: The present case provides evidence that partial monosomy 10q (10q25.3-->qter) with partial trisomy 18q (18q23-->qter) can be a genetic cause of fetal cystic hygroma and ambiguous genitalia. Cytogenetic analysis for prenatally detected structural abnormalities may detect unexpected inherited chromosome aberrations.

Adult↗
PubMed1991

Reversible effects of triamcinolone and lack of effects with aspirin or L-656,224 on external genitalia of male Sprague-Dawley rats exposed in utero.

Inhibitors of the arachidonic acid cascade were given to pregnant rats during the critical period for morphogenesis of the external genitalia. Groups treated subcutaneously (s.c.) with 0.1 or 0.25 mg/kg/day of triamcinolone acetonide (TA) on gestational days (GD) 14-19 had male fetuses on GD 20 with moderate decreases in absolute anogenital distance (AGD), but gross and histological examinations revealed no alterations to the genital tubercle (i.e., no hypospadias). The s.c. coadministration of arachidonic acid at 100 mg/kg/day had minimal to no effect on AGD in the TA-exposed groups. No effect on AGD was observed in male fetuses from groups administered aspirin orally at 150 mg/kg/day, and only a 6% decrease was observed in the 300-mg/kg/day group. Neither TA nor aspirin adversely affected AGD of female fetuses. In another study, TA was administered on GD 11-19 at dose levels of 0.05 and 0.1 mg/kg/day, and dams were allowed to deliver. High-dose male offspring examined on postcoitum day (PCD) 23, had moderate decreases in AGD. In both studies with TA, there were also significant decreases in offspring weights. The contribution of the decreased weight to the decrease in absolute AGD was examined by a variety of methods (ratio of AGD to cube root of weight or biparietal distance, comparison to weight-matched controls, and covariance analysis). We conclude that TA caused a specific decrease in AGD on GD 20 that was largely reversed by PCD 23. When examined as adults (8 weeks old), the external genitalia of TA-exposed offspring were normal. Thus, the TA-induced decreases in AGD on GD 20 did not predict irreversible malformation. TA also caused other effects, which included a somewhat flattened genital tubercle and apparently thinned and glossy skin between the tubercle and the anus in both sexes on GD 20 and PCD 23, but not as adults. In addition, there were high pup mortality and high incidences of micrognathia and omphalocele (in the 0.25-mg/kg/day group only). Aspirin at 75 or 150 mg/kg/day and a specific lipoxygenase inhibitor (L-656,224) at 1,000 or 2,000 mg/kg/day were also administered from GD 14 to 19, and no offspring effects were observed. Thus, of the three agents that potentially inhibit the arachidonic acid cascade, only triamcinolone produced moderate effects on rat external genitalia that were largely reversible.(ABSTRACT TRUNCATED AT 400 WORDS)

Abnormalities, Drug-Induced↗
PubMed1994

Reconstruction of the external genitalia in females with bladder exstrophy.

OBJECTIVES: A very characteristic genital anomaly accompanies bladder exstrophy in females. This includes anterior displacement and narrowing of the vagina and separation of the clitoris into two distinct bodies. The authors have had a relatively large experience with correction of this rare genital anomaly. From this experience, it began to appear that certain procedural details were associated with improved outcomes. The objective of this article was to review this experience and detail the reconstruction of the external genitalia in these patients. METHODS: All cases of bladder exstrophy in females presenting from January 1, 1970 to December 31, 1992 were reviewed. A total of eight patients who underwent surgical correction of the external genitalia were included. Data was obtained regarding urologic treatment, associated anomalies, corrective gynecologic procedures, complications and subsequent course. RESULTS: Corrective gynecologic surgery included enlargement of the vaginal orifice in all eight patients. Five patients had reapproximation of the bifid clitoris. Three patients performed postoperative dilatation therapy. Postoperatively, one patient experienced dyspareunia requiring a repeat procedure to enlarge the vaginal orifice. No patient had complications related to pelvic organ prolapse. CONCLUSIONS: Care should be taken not to extend the perineal incision too far posteriorly in reconstruction of the external genitalia in females with bladder exstrophy. Failure to do so may further predispose the patient to uterine prolapse. Post-operative dilator therapy may be an important adjunctive technique.

Adolescent↗
PubMed2005

Cosmetic and anatomic outcomes after feminizing surgery for ambiguous genitalia.

BACKGROUND: Reports on anatomic and cosmetic outcomes after genital surgery for children with ambiguous genitalia are mixed, with recent reports using standardized assessments suggesting poor outcomes and that multiple operations may be required. METHODS: All children with ambiguous genitalia and who had feminizing surgery at the Royal Children's Hospital in Melbourne, Australia, were identified. Standardized genital assessment was undertaken at their clinical review after informed consent. Underlying diagnosis, number and type of procedures performed, and the expertise of the surgeon were recorded from their medical notes. RESULTS: Of 32 patients examined aged 13 to 33 years, 47% had congenital adrenal hyperplasia. Ten patients had initial surgery performed elsewhere. Overall, there were good anatomic and cosmetic outcomes for those initially treated at our institute by a specialized surgeon, although some required additional intervention in adolescence or adulthood. Initial surgery before or after 2 years of age did not significantly affect outcomes. Those patients who had only 1 operation (by a surgeon with special interest in intersex) had better cosmetic and anatomic outcomes than those patients who had multiple operations. CONCLUSIONS: Cosmetic and anatomic outcomes of surgery for ambiguous genitalia were generally good when undertaken by pediatric surgeons with specific expertise in intersex surgery.

Adolescent↗
PubMed2006

Vascular anomalies of the female external genitalia.

BACKGROUND/PURPOSE: Vascular tumors and malformations are rare. This large series describes vascular anomalies of the female genitalia and their management. METHODS: An international review board-approved retrospective database and a record review from 1994 through 2004 was conducted. RESULTS: Of the 3186 female patients with a vascular anomaly, 82 (2.6%) had a lesion in the external genitalia. There were 60 malformations and 22 tumors. The most common malformations were combined capillary-lymphaticovenous, venous, and lymphatic. Tumors included 20 infantile hemangiomas, 1 kaposiform hemangioendothelioma, and 1 kaposiform lymphangioendothelioma. The referring diagnosis was incorrect in 56% of patients. Cutaneous stains, swelling, deformity, bleeding, fluid leakage, or infection were the prominent symptoms. Magnetic resonance imaging, ultrasonography, angiography, and computed tomography were used for diagnostic clarification. Malformation treatment consisted of sclerotherapy, embolization, and operative resection. Tumor management included observation, surgical excision, and antiangiogenic pharmacotherapy. CONCLUSIONS: Vascular anomalies of the female external genitalia are uncommon, and the initial diagnosis is often inaccurate. Correct diagnosis using clinical and radiographic data is feasible and leads to meaningful intervention for these frequently devastating lesions. Whereas tumors may respond to excision or antiangiogenic drugs, malformations require ablation or resection. Evaluation and management of these lesions is complex and benefits from interdisciplinary care.

Blood Vessels↗
PubMed2026

The role of the external genitalia score (EGS) in evaluation of disorders of sex development.

OBJECTIVE: To investigate the utility of the External Genitalia Score (EGS) in the diagnosis of disorders of sex development (DSD) and decision-making regarding gender assignment in affected patients. METHODS: A retrospective cohort study was conducted, enrolling 114 DSD patients aged <2 years (88 reared as males, 26 reared as females) treated at our hospital between April 2005 and June 2023, alongside 40 hypospadias patients aged <2 years who underwent surgery at our institution from January to July 2023. Demographic data (age) and EGS assessments of external genitalia were collected for all participants. Statistical analyses included independent samples t-tests, Mann-Whitney U tests and Receiver Operating Characteristic (ROC) curve analysis. Specifically, EGS scores were compared between the hypospadias group and the male-reared subgroup of the DSD cohort; additionally, EGS scores were contrasted between male-reared and female-reared DSD subgroups. RESULTS: The mean age was 20.3 months in the hypospadias group, 17.9 months in the male-reared DSD group, and 18.8 months in the female-reared DSD group. EGS ranged from 5.5 to 11.5 (median 10.5) in the hypospadias group and from 1 to 12 (median 4.75) in the DSD group. ROC curve analysis was performed to compare EGS scores between the hypospadias group and the male-reared DSD subgroup. The optimal diagnostic threshold was determined by maximizing the Youden index (sensitivity + specificity - 1), which balances sensitivity and specificity. A cut-off value of &#x2264;8.50 was identified as indicative of DSD; clinically, patients with an EGS score <9 should be prioritized for DSD screening. Further comparison between male-reared and female-reared DSD subgroups yielded a threshold of 4.00. Clinically, an EGS score &#x2264;4 may suggest a preference for female gender assignment. DISCUSSION: The EGS scale is a reliable, valid, and clinically feasible tool for characterizing external genitalia in DSD patients. An EGS score of 9 can serve as an indicator for initiating detailed sex development evaluation in hypospadias patients. While gender assignment in DSD is a complex, multifactorial process, EGS scores showed a significant association with the sex of rearing in our cohort. In settings where major determinants are balanced, EGS may serve as an adjunctive descriptive parameter rather than a standalone decision-making tool.

Humans↗
PubMed1997

Management of ambiguous genitalia in pseudohermaphrodites: new perspectives on vaginal dilation.

OBJECTIVE: To evaluate vaginal size and sexual activity after different techniques of feminization of external genitalia in patients with pseudohermaphroditism. DESIGN: Retrospective clinical study. SETTING: Pseudohermaphrodite patients seen at our institution. PATIENT(S): Three female and 20 male pseudohermaphrodites raised as females. INTERVENTION(S): Bilateral orchidectomy, feminization of external genitalia (clitoridectomy or clitoroplasty, urogenital sinus enlargement), and/or neovaginoplasty or vaginal dilation with acrylic molds. MAIN OUTCOME MEASURE(S): Psychological evaluation, vaginal size, and quality of intercourse. RESULT(S): All patients referred sexual drive to men. Fifty percent of the patients who were submitted to neovaginoplasty referred pain or bleeding during sexual intercourse. On the other hand, 87% of the patients who were submitted to vaginal dilation with acrylic molds, after genitoplasty or not, referred satisfactory sexual intercourse. All patients who were submitted to clitoroplasty referred orgasm and 29% of the patients submitted to clitoridectomy referred no orgasm. Of three patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, two became pregnant and delivered normal children through cesarian section. CONCLUSION(S): In pseudohermaphrodites with female social sex, surgical correction of external genitalia performed in childhood and vaginal dilation with acrylic molds performed when they wished to start having sexual intercourse resulted in best outcome.

Adolescent↗
PubMed1999

Pediatric management of ambiguous and traumatized genitalia.

PURPOSE: The present standard of practice in the management of ambiguous and traumatized genitalia was evaluated. MATERIALS AND METHODS: Published cases of intersexuality and protocols for the management of traumatized genitalia were reviewed with consideration of the input of intersexual individuals. Independent research on different types of intersexuality is also presented. RESULTS: The present standard pediatric recommendations and precepts for the management of ambiguous or traumatized genitalia are wanting. Followup studies on which to base treatment decisions are needed. Evidence based principles of medical management are proposed. CONCLUSIONS: A moratorium on sex reassignment cosmetic surgery is recommended. Also recommended are that followup studies should be instituted on past cases, and honesty and counseling should be the core of initial and subsequent treatment.

Child↗
PubMed2006

Feminizing reconstructive surgery for ambiguous genitalia: the Leipzig experience.

PURPOSE: We report the results of feminizing reconstructive surgery for ambiguous genitalia with regard to the degree of virilization according to Prader and the long-term outcome with special emphasis on sexual intercourse. MATERIALS AND METHODS: Patients 16 to 46 years old with CAH (41) and MPH (17) were followed continuously by an interdisciplinary team that provided standardized hormone substitution and reconstructive surgery. More virilized genitalia were treated using a 2-stage procedure. RESULTS: Of patients with CAH no surgery and clitoris reduction were done in 4 and 2 (Prader I and II), no surgery, a 1-stage and a 2-stage procedure were done in 2, 3 and 4 (Prader III), a 2-stage procedure, a 1-stage procedure and surgery for fistula were done in 16, 4 and 2, respectively, while 1 refused surgery (Prader IV), and a 2-stage procedure was done in 5, including pull-through vaginoplasty in 2 (Prader V). Of patients with MPH no surgery was done in 6 (Prader I and II), a 1-stage procedure and a 2-stage procedure were done in 3 and 1 (Prader III), respectively, and a 2-stage procedure was done in 6, while 1 refused surgery (Prader IV). Revision vaginoplasties were necessary in 7 patients (12.1%) because of scar stenosis in those who underwent 1-stage as well as 2-stage procedures. None of our patients required reconstructive surgery to create a neovagina. Of the 58 patients 32 achieved sexual intercourse and in 17 the postoperative result would allow sexual intercourse, while in 3 the possibility of sexual intercourse is uncertain. For 3 patients sexual intercourse would not be possible since feminizing reconstructive surgery was refused. One patient could not be followed. CONCLUSIONS: Two-stage surgery leads to a favorable outcome in patients with CAH and MPH, and virilized genitalia (Prader IV and V).

Adolescent↗
PubMedDate not supplied

Homology, limbs, and genitalia.

Similarities in genetic control between the main body axis and its appendages have been generally explained in terms of genetic co-option. In particular, arthropod and vertebrate appendages have been explained to invoke a common ancestor already provided with patterned body outgrowths or independent recruitment in limb patterning of genes or genetic cassettes originally used for purposes other than axis patterning. An alternative explanation is that body appendages, including genitalia, are evolutionarily divergent duplicates (paramorphs) of the main body axis. However, are all metazoan limbs and genitalia homologous? The concept of body appendages as paramorphs of the main body axis eliminates the requirement for the last common ancestor of limb-bearing animals to have been provided with limbs. Moreover, the possibility for an animal to express complex organs ectopically demonstrates that positional and special homology may be ontogenetically and evolutionarily uncoupled. To assess the homology of animal genitalia, we need to take into account three different sets of mechanisms, all contributing to their positional and/or special homology and respectively involved (1) in the patterning of themain body axis, (2) in axis duplication, followed by limb patterning mechanisms diverging away from those still patterning the main body axis (axis paramorphism), and (3) in controlling the specification of sexual/genital features, which often, but not necessarily, come into play by modifying already developed and patterned body appendages. This analysis demonstrates that a combinatorial approach to homology helps disentangling phylogenetic and ontogenetic layers of homology.

Animals↗
PubMedDate not supplied

Embryonic development of mouse external genitalia: insights into a unique mode of organogenesis.

The mammalian external genitalia are specialized appendages for efficient copulation, internal fertilization and display marked morphological variation among species. In this paper, we described the embryonic development of mouse genital tubercle (GT), an anlage of the external genitalia utilizing the scanning electron microscope (SEM) analysis. It has been shown that the Distal Urethral Epithelium (DUE) may fulfill an essential role in the outgrowth control of the GT. Our present SEM analysis revealed a small distal protrusion at the tip of the GT of normal embryos as well as some morphological differences between male and female embryonic external genitalia. Previous analysis shows that the teratogenic dose of Retinoic Acid (RA) induces a drastic marformation of the urethral plate, but not gross abnormalities for GT outgrowth. Interestingly, a small distal protrusion at the tip of GT was clearly observed also after RA treatement. Furthermore, we showed that treatment with anti-androgen flutamide resulted in the demasculinization of the GT in males. The unique character of GT development and the sexual dimorphism are discussed.

Animals↗
PubMed1999

Smith-Lemli-Opitz syndrome: in vivo and in vitro study of testicular function in a prepubertal patient with ambiguous genitalia.

The pathogenesis of the development of ambiguous genitalia reported in some 46,XY patients with Smith-Lemli-Opitz syndrome is not understood. Presumably, it is related to the 7-dehydrocholesterol reductase deficiency present in these patients. In this study we have evaluated testicular function, both in vivo and in vitro, in a 46,XY patient with ambiguous genitalia, reared as a girl. The diagnosis was based on clinical features, low serum cholesterol and high serum 7-dehydrocholesterol levels. Serum hormone values, determined during the first month of age, showed normal basal testosterone (1.95 ng/ml), LH (0.91 U/l) and FSH (2.51 U/l). However, serum testosterone did not increase after hCG administration (1.98 ng/ml). On the other hand, the patient had a positive biological response to exogenous testosterone (decrease in sex hormone-binding globulin serum levels). She was orchidectomized at the age of 33 mo. Testicular cells were dispersed and maintained in culture for 6 d. These cells showed a very good capacity to secrete testosterone into the culture medium (X +/- SD, 26.1 +/- 11.7 vs. 4.36 +/- 1.70 pmol/10(6) cells/24 h in a control group of testicular cells prepared from testes collected at necropsy). The patient's cells failed to respond to LH stimulation (18.6 +/- 4.0 pmol/10(6) cells/24 h), although they did respond to other stimuli. It is concluded that the severe cholesterol deficiency of this patient did not impair the capacity of the testes to synthesize testosterone. However, the LH/hCG receptor or its subsequent message was activated neither in vivo nor in vitro. This finding suggests that the foetal testes might have failed to respond to placental hCG at the time of male external genital differentiation. This failure could have been responsible for the ambiguous genitalia present in this patient.

Cells, Cultured↗
PubMed2003

Genital morphology and fertilization success in the dung beetle Onthophagus taurus: an example of sexually selected male genitalia.

In animals with internal fertilization and promiscuous mating, male genitalia show rapid and divergent evolution. Three hypotheses have been suggested to explain the evolutionary processes responsible for genital evolution: the lock-and-key hypothesis, the pleiotropy hypothesis and the sexual-selection hypothesis. Here, we determine whether variation in male genital morphology influences fertilization success in the dung beetle Onthophagus taurus, as predicted by the sexual-selection hypothesis. Variation in four out of five genital sclerites of the endophallus influenced a male's fertilization success, supporting the general hypothesis that male genitalia can evolve under sexual selection. Furthermore, different genital sclerites were found to enhance first versus second male paternity, indicating that different sclerites serve offensive and defensive roles. Genital-trait variability was comparable to that in other species but was less variable than a non-genital sexually selected trait (head horns). We suggest that directional selection for genital elaboration may be countered by natural selection, which should favour genitalia of a size and shape necessary for efficient coupling and sperm transfer.

Animals↗
PubMed2002

Allometry of male genitalia in a species of soldier beetle: support for the one-size-fits-all hypothesis.

Hypotheses about the functions of the male genitalia and the male scape in insects were tested by measuring the slopes of allometric relations in six populations of Chauliognathus scutellaris. All allometric relations used elytron length as the indicator of overall body size. Male genitalia have lower slopes than male pronota (a structure not involved in reproduction), male scapes (secondary sexual characters) have higher slopes than male pronota, and female scapes have slopes that are not different from the slopes of female pronota. These results support Eberhard's one-size-fits-all hypothesis regarding the size of male genitalia in insects, and they raise questions about the role of the male scape in reproductive activities.

Animals↗