The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene

Background Women with 21-hydroxylase deficiency present much variability in external genitalia virilization, even among those with similar impairments of 21-hydroxylase (21OH) activity. Objective To evaluate if the number of CAG (nCAG) repeats of the androgen receptor gene influences the degree of external genitalia virilization in women with CYP21A2 mutations, grouped according to impairment of 21OH activity. Patients The nCAG was determined in 106 congenital adrenal hyperplasia (CAH) patients and in 302 controls. The patients were divided, according to their CYP21A2 genotypes, into Groups A and B, which confer total and severe impairment of 21OH activity, respectively. Methods The inactivation pattern of the X-chromosome was studied through genomic DNA digestion with Hpa II. The CAG repeat region was amplified by polymerase chain reaction (PCR) and analysed by GeneScan. Results The nCAG and the frequency of severe skewed X-inactivation did not differ between normal women and patients. The nCAG median in genotype A was 20.7 (IQR 2.3) for Prader I + II, 22.5 (3.6) for Prader III and 21 (2.9) for Prader IV + V (P < 0.05 for Prader III and Prader IV + V). The nCAG median in genotype B was 21.3 (1.1) for Prader I + II, 20.5 (2.9) for Prader III and 22 (2.8) for Prader IV + V (P > 0.05). A significant difference was found regarding the nCAG median in patients presenting Prader III from genotypes A and B. Conclusions We observed great variability in the degree of external genitalia virilization in both CYP21A2 genotypes, and we showed that the CAG repeats of the androgen receptor gene influences this phenotypic variability.

The female external genitalia of the spotted hyena [by] D. Dwight Davis and H. Elizabeth Story.

v.31:no.33(1949)

Male external genitalia of non-prehensile tailed South American monkeys. Philip Hershkovitz.

n.s. no.73(1993)

Paracoccidioidomycosis of external genitalia: report of six new cases and review of the literature

BACKGROUND: Paracoccidioidomycosis is a systemic mycosis of dermatological interest due to the frequency of cutaneous and mucosal lesions. The involvement of the external genitalia is extremely rare and few cases have been reported.OBJECTIVE: To study the prevalence of external genitalia lesions in paracoccidioidomycosis patients, identify clinical characteristics and compare with what is observed in the specific literature.METHODS: This is a cross-sectional, descriptive study, with focus on paracoccidioiodomycosis patients with external genitalia lesions. The demographic and clinical aspects of cases were compared with what has been reported so far on LILACS, SciELO e MEDLINE data bases.RESULTS: Data of 483 cases of paracoccidioidomycosis were studied in a 42-year period. Six (1.2%) patients showed specific lesions on external genitalia. Five patients were male with mean age of 47.2 years and all of them presented with the chronic multifocal clinical form. Only one, a 15-year-old female patient was observed who showed a subacute clinical form, juvenile type.CONCLUSIONS: Compromise of the genitourinary tract among paracoccidioidomycosis patients is rare and even rarer when only the external genitalia are considered. As observed in the classical picture of paracoccidioidomycosis patients, the male gender and the chronic multifocal clinical form prevailed in the present study.

Testicular fine needle aspiration cytology from a stallion with testicular degeneration after external genitalia trauma.

A seven-year-old Quarter Horse had a serious external genitalia trauma with severe swelling of ventrum, penis, prepuce and scrotum after falling over a fence. Appropriated treatment was rapidly started after clinical examination. During recovery period, the spermatogenesis assess by semen evaluation was not possible due to stallion's inability to ejaculate. Therefore, for testicular evaluation fine needle aspiration cytology (FNAC) was performed. The first FNAC showed a deviation of germ cell line towards immature cells, mainly by primary spermatocytes (59.5%) with very few late spermatids and spermatozoa (2.5% each), and an increased Sertoli cells/germ cells ratio (478/100), which characterized testicular degeneration. One month after the first FNAC, the second exam presented a drastic decrease of Sertoli cells/germ cells ratio (7/100) and marked increase of mature cell number, specially by early and late spermatids (50% and 24.5%, respectively). In this case, the results of both FNAC could demonstrate a partial recovery of spermatogenesis activity. Two months later, the stallion had mated two mares successfully and they became pregnant. In conclusion, the adequate treatment allowed a complete recovery of the stallion's reproductive function, and since semen collection was impossible during treatment, testicular FNAC showed to be an efficient diagnostic method for evaluating acute damage in the spermatogenesis.

Variations of the External Male Genitalia in Three Populations of Triatoma infestans Klug, 1834

Triatoma infestans is the triatomine that presents the greatest dispersion area in South America. However, it is not known whether the original characteristics of this insect remained in its long dispersion process. The purpose of this work was to study comparatively the external male genitalia of insects from different populations of T. infestans, two from Brazil (Minas Gerais and Bahia) and one from Bolivia (Cochabamba Valley), and to investigate the correlation between the morphological and behavioral variations. Differences were observed in one of the structures of the external genitalia (endosoma process) that could be used to characterize the insects from the three populations studied.

Glandular areas associated with the male genitalia in Triatoma rubrofasciata (Triatominae, Reduviidae, Hemiptera) and other Reduviidae

In this paper, glandular areas associated with the phallus in Triatoma rubrofasciata are described and illustrated for the first time. The glandular areas lie in the membrane surrounding the articulatory apparatus. In order to unambiguously define the locality of the respective glandular areas, some features of the pygophore-phallus connection are redescribed. A possible functional context of the gland secretions is discussed. A preliminary study of several other Reduviidae implies that the described glandular areas occur in a wider range of taxa in this group.

46,XY DSD due to impaired androgen production

Disorders of androgen production can occur in all steps of testosterone biosynthesis and secretion carried out by the foetal Leydig cells as well as in the conversion of testosterone into dihydrotestosterone (DHT). The differentiation of Leydig cells from mesenchymal cells is the first walk for testosterone production. In 46,XY disorders of sex development (DSDs) due to Leydig cell hypoplasia, there is a failure in intrauterine and postnatal virilisation due to the paucity of interstitial Leydig cells to secrete testosterone. Enzymatic defects which impair the normal synthesis of testosterone from cholesterol and the conversion of testosterone to its active metabolite DHT are other causes of DSD due to impaired androgen production. Mutations in the genes that codify the enzymes acting in the steps from cholesterol to DHT have been identified in affected patients. Patients with 46,XY DSD secondary to defects in androgen production show a variable phenotype, strongly depending of the specific mutated gene. Often, these conditions are detected at birth due to the ambiguity of external genitalia but, in several patients, the extremely undervirilised genitalia postpone the diagnosis until late childhood or even adulthood. These patients should receive long-term care provided by multidisciplinary teams with experience in this clinical management. (C) 2009 Elsevier Ltd. All rights reserved.

Mutilação Genital Feminina - a Importância de Reconhecer e de Saber como Agir

Female genital mutilation, also named female genital cutting or female circumcision, refers to all practices involving total or partial removal of female external genitalia, or causing other lesions without an established health benefit. The World Health Organization estimates that 130 million women have been submitted to genital mutilation and 3 million are annually exposed to such risk in Africa. It has classified the practice of female genital mutation in four types. Portugal is considered a risk country for the practice of genital mutilation because of the high migration rates from the African continent, and women from Guinea-Bissau are at particular risk. A multidisciplinary commission published an Action Program in 2009, with measures directed at providing healthcare professionals with information on how to deal with this problem.

Estudo da genitália externa masculina de duas espécies de Opisthacidius Berg, 1879 (Hemiptera, Reduviidae, Reduviinae)

In order to stablish new taxonomic characters for the genus Opisthcidius a detailed comparative study of the male external genitalia was performed in O. rubropictus (H. Shaeffer, 1848), the type species, and O. pertinax (Breddin, 1903), mantioned as predators of triatomines. The most representative phallic structures were: the median process of pygophore, the phallosoma struts and the vesica process.

Estudos morfológicos de Cavernicola lenti Barrett & Arias, 1985 (Hemiptera, Reduviidae, Triatominae)

In order to widen the present knowledge of this species, was done a detailed description of eggs and all nymphal stages as well as the external genitalia of the males and females using light and scanning electron microscopy. The characteristics were compared with another species of the same genus C. pilosa Barber, 1937. Observations on the male internal genitalia were also done.

Estudo comparativo da genitália externa masculina de Triatoma neotomae Neiva, 1911 e Triatoma nitida Usinger, 1939 (Hemiptera, Reduviidae)

The morphological comparative study of the phallus organs, of both species, shown five structures wich may be used as taxonomic characters. They are: parameres (Pa), median process pygophore (PrP), basal plate (EPbi), gonopore (PrG) and endosoma process (PrEn).

Rhodnius stali n. sp., afim de Rhodnius pictipers Stal, 1872 (Hemiptera, Reduviidae, Triatominae)

Rhdnius stali n. sp. was described based on specimens deposited in the Herman Lent Collection of Entomological Collection of Oswaldo Cruz Institute, until now identified as Rhodnius pictipes Stal, 1872 and compared with specimens of R. pictipes proceeding from state of Amazonas and Pará, Brazil. R. stali is related to R. pictipes though distinguished by the total length, 15 to 17 mm male and 16,5 to 19 mm female, the anteocular region 2,5 times larger than postocular region and by the shape of phallic strictures known as: phallosoma, struts, gonopore process and endosoma process.

Triatoma matsunoi Fernandez-Loayza, 1989 com um estudo sobre a genitália externa masculina (Hemiptera, Reduviidae, Triatominae)

The authors complement the description of Triatoma matsunoi Fernandez-Loayza, 1989 and present the morphology of the male external genitalia, characterized by the presence of conjuntiva process (PrCj) denticulate, basal plate (Eplb) too long and median process pygophore (PrP) showing the apex streched and the surface rugose and scaled. The specimens examined (holotype [male symbol] and allotype [female symbol]) were deposited in the Collection Herman Lent of Triatomines of the Instituto Oswaldo Cruz, IOC, Rio de Janeiro, Brazil.

Mermaid syndrome: virtually no hope for survival.

Sirenomelia, also called the mermaid syndrome is a severe malformation involving multiple organs and characterized by partially or completely developed lower extremities fused by the skin. The birth of a "mermaid" is very rare (1.2-4.2 cases for 100,000 births); most are stillborn, or die at or shortly after birth. The case of a living female neonate with dipodic simelia (fusion of well-developed legs) is presented. No prenatal diagnosis was made and the newborn had an uneventful neonatal course following Cesarean section delivery. The complex and striking malformation was obvious at birth and further evaluation revealed very poorly functioning kidneys, associated with abnormal anorectum, urogenital tract, and external genitalia, as well as a pelvic malformation. Supportive care was applied because of the poor prognosis and the child died at 7 weeks of age, due to renal failure.