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PubMed1984

Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia.

Two infants with features of the Smith-Lemli-Opitz (SLO) syndrome were found to have a 46,XY karyotype and female external genitalia. Autopsies showed normal testes for age with normal Wolffian duct structures and without Müllerian duct derivatives. This failure of masculinization of the external genitalia is an unusual finding and may represent the extreme of a spectrum of the genital anomalies commonly seen in males with this autosomal recessive syndrome. An endocrine evaluation on one of these infants at 3 months suggested unusually low testosterone production and meagre response to stimulation with human chorionic gonadotropin (hCG). The failure of complete masculinization of external genitalia in some cases of SLO syndrome may be due to inadequate testosterone production in utero.

Abnormalities, Multiple↗
PubMed1997

A case of ambiguous genitalia with unilateral amelia and unilateral peromelia of the upper limbs.

A 7-year-old patient is reported with a 46,XY karyotype, ambiguous genitalia and unilateral amelia and unilateral peromelia of the upper limbs. The external genitalia had essentially a female configuration with labia majora, large clitoris, and narrow vaginal opening. Gonadal tissue was not palpable on either side. The levels of 17-OH progesterone dehydroepiandrosterone sulfate (DHEA-S), androstenedione and luteinizing hormone (LH) were normal, but the level of follicle stimulating hormone (FSH) was elevated minimally. Abdominal ultrasonography (USG) was normal. On pelvic USG, neither uterus nor ovaries were seen. Genitography showed a blind vagina. Gonads, Müllerian and/or Wolffian structures were not observed at laparotomy. Clitoral recession and cut-back vaginoplasty were performed. The occurrence of these findings suggests embryonic testicular regression syndrome with bilateral transverse defect of the upper limbs. The case has been presented because the pattern of the birth defects, including both ambiguous genitalia and unilateral amelia on one side of the upper limbs and unilateral peromelia on the other, have not been described previously.

Abnormalities, Multiple↗
PubMed1988

Complete absence of external genitalia in limb-body wall complex: two cases.

Two neonates with limb-body wall complex (LBWC) and complete absence of the external genitalia are presented. Our patients are the sixth and seventh cases of complete absence of the external genitalia recorded in English publications and the first two cases associated with LBWC. The incidence of complete absence of the external genitalia in our newborn population during a period of 12 years (1975 to 1986) was one case per 13 420 births.

Abnormalities, Multiple↗
PubMed2006

Epidemiology and initial management of ambiguous genitalia at birth in Germany.

BACKGROUND: In this epidemiological study, we sought to capture the incidence of ambiguous genitalia in neonates and to describe initial management strategies. METHODS: We used the registry for rare diseases in pediatrics in Germany to ascertain cases and asked reporting institutions for information on phenotype, laboratory tests, imaging results, diagnosis, initial management and sex assignment. RESULTS: We identified 80 cases within a 2-year study period and calculated an incidence of 2 per 10,000 births with ambiguous genitalia per year in Germany. Prevalence was higher in infants from non-German family background. In more than 50% of all infants a definite diagnosis was lacking even at the age of 6 months. In those cases where the etiology was confirmed, the most common diagnosis was congenital adrenal hyperplasia, followed by androgen insensitivity syndrome and mixed gonadal dysgenesis. Associated malformations were very common, affecting 37.5% of all infants. Sex assignment was female in 46,XY infants with predominately female phenotype and all 46,XX infants. Early surgery was performed in many cases irrespective whether a definite diagnosis had been established or not. Integrated psychosocial care was the exception rather than the rule. CONCLUSIONS: Classification and management of ambiguous genitalia at birth remain a challenge for all professionals involved. National and international registries may help to provide a better understanding of the incidence and clinical course of such disorders.

Algorithms↗
PubMed2003

Expression of functional estrogen receptors in human fetal male external genitalia.

It is generally assumed that male genital development is determined by androgens on a default program leading to female genitalia. Female genitalia virilization is due to high levels of androgens, whereas feminization is linked to reduction or lack of fetal androgen. Excess androgen determines sex reversion in female, whereas excess estrogen does not cause male feminization. In the present study, we investigate the presence of androgen receptors (AR) and estrogen receptors (ER) in human fetal penile tissue and in a cellular model of human fetal penile smooth muscle cells (hfPSMC). By immunohistochemistry, we showed the presence of ER and AR in the developing penile tissue of male fetuses. Besides the presence of AR, hfPSMC showed ERalpha/beta as demonstrated by RT-PCR, Western blot, and binding techniques. These receptors are functionally active because cell stimulation with 17beta-estradiol increased progesterone receptor B expression and inhibited hfPSMC growth, both effects being reversed by tamoxifen. Conversely, cell proliferation was stimulated by R1881 and testosterone, an effect enhanced by letrozole. These findings are the first demonstration of the presence of functional ER in differentiating male external genitalia and indicate a possible novel inhibitory role of estrogens in the regulation of the development of these sex structures.

Aromatase Inhibitors↗
PubMed2002

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

The Wilms' tumor gene (WT1) encodes a zinc-finger transcription factor involved in the development of the kidneys and gonads and their subsequent normal function. Mutations in the WT1 gene were identified in patients with WAGR (Wilms' tumor, aniridria, genitourinary abnormalities, and mental retardation), Denys-Drash syndrome, and Frasier syndrome (FS). Constitutional heterozygous mutations of the WT1 gene, almost all located at intron 9, are found in patients with FS. This syndrome is characterized by female external genitalia in 46,XY patients, late renal failure, streak gonads, and high risk of gonadoblastoma development. We report a male with FS with an unusual phenotype characterized by normal penis size with perineal hypospadias, end-stage renal failure at the age of 19 yr, normal adult male serum T levels, extremely elevated gonadotropin levels, para-testicular leiomyoma, unilateral testicular germ cell tumor, bilateral gonadoblastoma, and absence of gonadal dysgenesis. Automatic sequencing identified the IVS9 +4C>T mutation in the WT1 gene, which predicts a change in splice site utilization. WT1 transcript analysis showed reversal of the normal positive/negative KTS (lysine, threonine, and serine) isoform ratio, confirming the diagnosis of FS. This patient with FS presents an external genitalia of Denys-Drash syndrome, suggesting that these two syndromes are not distinct diseases but may represent two ends of a spectrum of disorders caused by alterations in WT1 gene. This case expands the spectrum of phenotypes associated with WT1 mutations, by including predominantly male ambiguous genitalia and absence of gonadal dysgenesis, extremely high gonadotropin levels, and delayed adrenarche, and presence of a para-testicular leiomyoma, bilateral gonadoblastoma, and germ cell neoplasia.

Adrenal Cortex↗
PubMedDate not supplied

Examining adult male genitalia: providing a guide for the nurse.

This article provides the nurse with an overview and guidance concerning examination of the adult male genitalia. Issues such as ensuring privacy, developing a relationship and explaining the procedure are discussed. Advice is provided that will allow the nurse to perform the examination using sight, palpation and transillumination, activities that are central to the examination. An overview of the structure and function of male genitalia is provided. Examination of the male genitalia is an intimate activity and in this article emphasis is placed on the issues of informed consent and the importance of ensuring that each patient has a chaperone present during the examination. Detailed discussion is provided to enable the nurse to use a step-by-step approach to ensure a thorough and detailed examination is performed. A checklist and review of the examination process is included.

Adult↗
PubMed2003

A novel mutation of the 5alpha-reductase type 2 gene in two unrelated Egyptian children with ambiguous genitalia.

OBJECTIVE: To establish an etiological diagnosis in two unrelated Egyptian children with ambiguous genitalia through biochemical and molecular analyses. PATIENTS AND METHODS: Two XY patients were referred: one at the age of 14 years presenting with delayed puberty and menarche and the second at the age of 4 months with ambiguous genitalia. Basal and post-HCG stimulation plasma levels of testosterone (T) and dihydrotestosterone (DHT) were determined. Direct sequencing of the five exons of the 5alphaR type 2 gene and exons 2 to 8 of the androgen receptor gene was carried out. RESULTS: The high T/DHT value indicated 5alphaR deficiency in the first patient while the absence of parental consanguinity along with normal T/DHT value in the second patient suggested androgen insensitivity. In both patients, we identified a homozygous A --> G mutation in exon 3 that replaced the asparagine residue at position 160 by an aspartic acid. The parents of both patients were all heterozygotes for the N160D substitution. CONCLUSIONS: 1) We report a new mutation that enlarges the spectrum of genetic defects in 5alphaR deficiency. 2) Although the two patients were referred at very different ages, the clinical presentations raise the possibility of phenotypic variability for the same mutation. 3) These reports underline the difficulty of diagnosing 5alphaR deficiency based only on clinical and biochemical grounds. Molecular study remains the only definitive tool for diagnosis of ambiguous genitalia.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed1986

Early prenatal treatment of ewes with testosterone completely masculinises external genitalia of female offspring but has no effects on early body weight changes.

Treatment of pregnant ewes from day 20 of gestation with 100 mg implants of crystalline testosterone did not cause masculinisation of genitalia or affect growth rates of female lambs. Prenatal treatment from day 20 of gestation with testosterone propionate (1.2 g in divided doses for four weeks) or testosterone cypionate (600 mg in 3 doses over three weeks) completely masculinised the external genitalia of female lambs producing a ventral penis and scrotum with no external vaginal opening: ovaries and uteri were normal. Single male lambs were significantly heavier than female lambs during a 16 week measurement period, but masculinised female lambs were not different from controls. In the twin lamb groups, there were no differences between male and female or treated and control lambs. Body weights of castrated male lambs born as twins were not different from entire controls. It was concluded that testosterone treatment of developing lambs from 20 to 65 days of gestation produces complete masculinisation of external genitalia of female lambs but does not affect body weight during the first 16 weeks of age.

Animals↗
PubMed2000

Evaluation of the newborn with developmental anomalies of the external genitalia. American Academy of Pediatrics. Committee on Genetics.

The newborn with abnormal genital development presents a difficult diagnostic and treatment challenge for the primary care pediatrician. It is important that a definitive diagnosis be determined as quickly as possible so that an appropriate treatment plan can be established to minimize medical, psychological, and social complications. The purpose of this review is to identify which newborns among those with abnormal genital development need to be screened for intersexuality, to outline the investigations necessary, and to suggest indications for referral to a center with experience in the diagnosis and management of these disorders. An outline is also presented of the embryology of the external genitalia indicating where errors can arise to provide a framework for pediatricians to use when counseling families. Although the focus of this review is on newborns with what has been termed "ambiguous genitalia," it should be recognized that most genital abnormalities in newborns do not result in an ambiguous appearance. These anomalies include hypospadias, in which the genitalia are clearly malformed, although the sex is unquestionably male.

Adrenal Hyperplasia, Congenital↗
PubMed1996

Ambiguous genitalia.

The newborn whose genitalia are ambiguous presents a challenge to the pediatrician and the family. A clear understanding of the basis of sex differentiation and timely consultation with a pediatric endocrinologist is critical in the evaluation and determination of sex of rearing in a newborn who has ambiguous genitalia. Sex karyotype and a 17-OHP level may suffice in the initial evaluation of female pseudohermaphroditism because most patients will have virilizing CAH. If male pseudohermaphroditism is suspected on the basis of palpable gonads, we routinely obtain a karyotype, basal adrenal steroid levels, and levels of hCG-stimulated serum testosterone and DHT, then consider a testosterone treatment trial. Physicians who care for children who have ambiguous genitalia must appreciate the family's cultural, religious, and psychological needs and avoid determining sex of rearing before accurate diagnosis is reached.

Anti-Inflammatory Agents↗
PubMed2006

Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome.

INTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT: Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. Karyotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea.

Electroencephalography↗
PubMed2006

Morphological association between spermatophores and male genitalia in carabid beetles of the tribe Pterostichini (Coleoptera: Carabidae).

A morphological association between genitalia and ejaculates could provide insight into the function and evolution of genitalia. In this study, the morphologies of the ejaculates and male genitalia of 15 species of Pterostichini and two species of Platynini (Coleoptera: Carabidae) are described. All the species examined formed a spermatophore, the morphology of which could be classified into three types based on its relative volume in the female vaginal cavity and the presence or absence of a pluglike conformation. Male genital morphology could be divided into two types by the direction of the endophallus and gonopore. Species with a strongly bent endophallus invariably formed a pluglike spermatophore. The results suggest that the peculiar shape of endophallus found in some species of Pterostichini may function in forming the pluglike structure of the spermatophore.

Animals↗
PubMed2003

Successful complex decongestive physiotherapy for lymphedema and lymphocutaneous reflux of the female external genitalia after radiation therapy.

Development of secondary lower extremity lymphedema after cervical cancer is common. However, severe lymphedema of the female genitalia and vesicular cutaneous lymphatic reflux without lower limb lymphedema after treatment of cervical cancer is rare. We report successful complex decongestive physiotherapy (CDP) in a 53-year-old female who developed recurrent folliculitis, lymphocutaneous reflux, warty change of the right labium majora, and lymphedema involving the external genitalia after receiving hysterectomy, pelvic lymph node dissection, and radiation. CDP included skin care, manual lymphatic drainage, exercise, and use of a hip spica bandage and panty girdle garment. Oral antibiotics were prescribed to control the skin infection. Lymphatic discharge and folliculitis were markedly improved after a 3-week course of treatment. Traditional conservative treatment with pneumatic compression and massage is ineffective and not suitable in controlling lymphedema of the external genitalia. Use of CDP may help to relieve the symptoms and recurrent infection in patients with this condition.

Carcinoma, Squamous Cell↗
PubMed2003

Morphology of the male genitalia and sperm fine structure in siluroid fish.

Morphology of male genitalia and sperm fine structure of 4 siluroid fish, Callichthys thoracatus (Callichthyidae), Dysichthys coracoideus (Aspredinidae), Mystus armatus (Bagridae) and Ancistrus triradiatus (Loricariidae) were studied. In Dysichthys coracoideus and Ancistrus triradiatus the male genitalia consisted of paired testes and spermatic ducts but had no seminal vesicles. In Callichthys thoracatus the male genitalia had also paired seminal vesicles which were separated from the testis and emptied into the spermatic duct. Also in Mystus armatus seminal vesicles were found. They were not separated from the testes but the seminiferous tubules changed into seminal vesicle lobes which finally emptied into the spermatic ducts. All the investigated species had simply organized aquasperms typical for external fertilizing teleosts which were characterized by an ovoid or elliptoid head, by a small midpiece and by the absence of an acrosome. The spermatozoa of Dysichthys coracoideus and Mystus armatus were biflagellate, while they were monoflagellate in Ancistrus triradiatus and Callichthys thoracatus. The proximal centriole was reduced in Dysichthys coracoideus and Mystus armatus and the basal body attached to the nucleus. Single mitochondria were found in Dysichthys coracoideus, Ancistrus triradiatus, and Callichthys thoracatus. On the contrary, in Mystus armatus mitochondria were fused to a more complex chondriosome.

Animals↗
PubMed2004

[Differentiation of external genitalia and 5 alpha-reductase].

Sexual differentiation of the external genitalia depends on many factors such as genetic sex, gonadal sex or androgen action. Among them, 5 alpha-reductase plays an important role in androgen action: dihydrotestosterone(DHT) is produce from testosterone by 5 alpha-reductase and DHT binds the androgen receptor to induce the differentiation of the external genitalia. In this paper we reviewed on the mechanism of the differentiation of the external genitalia, especially on the relation with androgen action and 5 alpha-reductase.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed1990

Causes, presentation and survival of fifty-seven patients with necrotizing fasciitis of the male genitalia.

This analysis of our experience with 57 men with necrotizing fasciitis of the genitalia was done to identify prognostic variables and to assess the results of a treatment policy of immediate and, if required, repetitive surgical debridements. The mean age of the patients was 55 years. Thirty-eight patients were alcoholics or diabetics, or both. All of the infections were of a genitourinary, anorectal or cutaneous source. Thirty-five per cent of the infections were confined to the genitalia and 65 per cent extended to the abdominal wall or thigh, or both. Forty-seven patients survived. Survival was associated significantly with a younger age, a serum blood urea nitrogen (BUN) level of less than 50 milligrams per deciliter at presentation, the absence of a constellation of abnormalities at presentation consistent with sepsis and a decreased incidence of major complications after initial débridement (p less than 0.05 to 0.01). Survival was not associated with the extent of infection, the duration of symptoms before hospitalization, systemic risk factors, the source of infection, abnormal findings at presentation (excluding a BUN of greater than 50 milligrams per deciliter) and the bacteriologic factors of the infection. Both localized and extensive necrotizing fasciitis of the male genitalia are potentially lethal disorders that require prompt treatment.

Bacterial Infections↗
PubMed1986

Microlymphaticovenous anastomosis for lymphedema of external genitalia in females.

Lymphedema of the female external genitalia is seldom reported and can be psychologically distressing to the patient. On the basis of microlymphaticovenous operations for lymphedema of the extremities, a new microsurgical operation has been developed for treating lymphedema of the female external genitalia and applied clinically in six patients with good results. Edema of the female external genitalia and of the lower part of the abdominal wall has been reduced postoperatively, the chylorrhea has disappeared and the blisters on the vulva have vanished. The operative techniques and the anatomic basis of the operation are described, the six patient histories are illustrated and the correlation between number of anastomoses and quality of results are discussed herein.

Adolescent↗