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PubMed1986

Teenagers' choices regarding the presence of family members during the examination of genitalia.

This study was designed to assess the outcome of offering teenagers the option of being accompanied by a family member during examinations involving the genitalia. Data were collected from patients' first visits, in an 18-month-period, to an adolescent clinic serving a Black, inner-city population. Of 1358 such patients visits (73% females), 550 (40.5%) patients were accompanied to the clinic by a family member. Chi-square analysis revealed: 1) for both sexes, the youngest teenagers (age 11-13 years) were accompanied significantly more often than those aged 14-16 years, who in turn were accompanied significantly more often than the oldest group (age 17-20 years); and 2) although males tended to be accompanied more often than females, this effect was significant only for teenagers aged 14-16 years. Of the 550 accompanied patients, 207 had a genital examination and 190 of these were offered the option of having a family member present. Fifty percent of the patients accepted; there was no significant relationship between patients' age or sex and acceptance. Physicians judged the outcome of the 94 cases with family member present. Having the family member present was viewed as beneficial for the patient and/or the physician in 86% of the cases, and 13% were neutral (no benefit/no problem).

Adolescent↗
PubMed1986

Inhibition of testicular development and feminization of the male genitalia by neonatal estrogen treatment in a marsupial.

Differentiation of the mammalian gonad is thought to be constitutive, occurring independently of and not significantly altered by gonadal hormones. In this study, estradiol benzoate (EB) and testosterone propionate (TP) were administered to newborn gray opossums (Monodelphis domestica) during the first week after birth. It was found that males and females treated with TP and females treated with EB developed normally. In males treated with EB on both Day 1 and Day 3 of postnatal life, gonads did not differentiate and internal and external genitalia were feminine. These findings are discussed with respect to current theories of mammalian sexual differentiation.

Animals↗
PubMed1990

Surgical management of neonates and children with ambiguous genitalia.

Gender assignment is a neonatal surgical emergency. Early evaluation and treatment of intersexuality must be done as a team approach with a genetist, a paediatric endocrinologist and a paediatric surgeon/urologist taking part in it. Change of gender after 2 years of confusion of gender identity often results in social disaster. Over a period of 20 years the authors managed a total of 27 patients with ambiguous genitalia. They favour early reconstruction of most anomalies at about 3 years of age, which seems to be optimal in terms of surgical feasibility and avoidance of the obvious emotional problems caused by delayed intervention. A detailed description of policy and techniques is given for surgical intervention in the patient to be raised as a female or as a male. They changed the gender in three patients, twice in neonates and once before two years of age.

Adolescent↗
PubMed2004

Morphology and function of male genitalia (spermatophores) in Euscorpius italicus (Euscorpiidae, Scorpiones): complex spermatophore structures enable safe sperm transfer.

The structure and function of the spermatophore of Euscorpius italicus are analyzed. We show how the spermatophore gets shaped from two hemispermatophores and for the first time the sperm transfer mechanism is shown in detail, illustrating function and importance of all complex lobe structures of an euscorpiid spermatophore. A detailed description of the interaction of spermatophore and female genitalia is given. The capsular region of the spermatophore bears different lobes: The distal and basal lobes hook into two cavities on the inner side of the female's genital operculum. A so-called "crown-like structure" hooks into a membranous area in the genital atrium. During sperm transfer, these crown-like structures move backwards, in this way widening the female's genital opening. The sperm duct of the spermatophore is coated with numerous spicules on its outer side, which could serve as a sealing mechanism and/or may stimulate the female. Furthermore, we conclude that "safeguarding of sperm transfer" is one driving force for evolution of male genital complexity in scorpions, but also sexual selection by cryptic female choice could partly play a role.

Animals↗
PubMed1986

The arachidonic acid cascade is involved in the masculinizing action of testosterone on embryonic external genitalia in mice.

We have evaluated whether the arachidonic acid cascade may be involved in the folding and fusion of the penis and scrotum in masculine differentiation, a possibility raised by recent observations of the involvement of the arachidonic acid cascade in the analogous embryonic processes of elevation and fusion of the palatal shelves and of folding and fusion of the neural tube. To test this hypothesis, during embryonic masculine differentiation in mice of the B10.A strain, we administered certain agents that produce blockade of masculinization. We report that arachidonic acid can reverse the inhibition of masculine development in male embryos produced by estradiol-17 beta or by cyproterone acetate, an androgen receptor-site blocker, and that such reversal can be prevented by an inhibitor of cyclooxygenase, such as indomethacin. We have also found that agents that block the arachidonic acid cascade at the level of phospholipase A2 (cortisone, phenytoin) or at the level of cyclooxygenase (indomethacin, aspirin) also block masculine differentiation and that such antimasculinization is reversed by arachidonic acid. The masculinization of male embryos is inhibited by indomethacin and aspirin, and the masculinization of female embryos produced by exogenous testosterone is prevented by indomethacin. These findings provide evidence that the mechanism by which testosterone organizes the genitalia involves a role of the arachidonic acid cascade leading to prostaglandins at a critical period of development and that interference with testosterone synthesis or action leads to a teratogenic deficiency of arachidonic acid during this time in the genital anlagen.

Animals↗
PubMed1991

HOX-4 genes and the morphogenesis of mammalian genitalia.

We examined the temporal and spatial expression patterns of the homeo box HOX-4 complex genes during the morphogenesis of the genitalia of mice. The results show that only those Hox-4 genes that are expressed very posteriorly in the trunk, or very distally in the limbs, seem to be involved in the patterning of the genital tubercle. This is consistent with the idea of "temporal colinearity", which suggests that the very last structure to require patterning during vertebrate development will express Hox genes located at the 5' extremity of the HOX complexes. We also show that genital tubercle mesenchyme can respecify pattern in the chicken wing bud. This finding reinforces the concept of the uniformity in the patterning mechanisms along the various axes of the body.

Animals↗
PubMed2003

Surgical management of ambiguous genitalia.

The surgical management of children born with ambiguous genitalia has always been difficult, subject to evolving attitudes and techniques, and at times controversial. Standard protocols have stressed the need for early diagnosis, gender assignment, and appropriate surgery in infancy.(1) In recent years some authors, backed by patient support groups, have claimed that such surgery is damaging or mutilating and, as it is essentially cosmetic, should not be performed until the fully informed consent of the patient could be obtained-that is, when the child becomes "Gillick competent".(2-)(4) There are, however, so many specific issues related to the different diagnostic groups that such a policy would seem to be too prescriptive.

Adrenal Hyperplasia, Congenital↗
PubMed2005

Ambiguous genitalia and intersex.

Intersex disorders are rare congenital malformations with over 80% being diagnosed with congenital adrenal hyperplasia (CAH). It can be challenging to determine the correct gender at birth and a detailed understanding of the embryology and anatomy is crucial. The birth of a child with intersex is a true emergency situation and an immediate transfer to a medical center familiar with the diagnosis and management of intersex conditions should occur. In children with palpable gonads the presence of a Y chromosome is almost certain, since ovotestes or ovaries usually do not descend. Almost all those patients with male pseudohermaphroditism lack Mullerian structures due to MIS production from the Sertoli cells, but the insufficient testosterone stimulation leads to an inadequate male phenotype. The clinical manifestation of all CAH forms is characterized by the virilization of the outer genitalia. Surgical correction techniques have been developed and can provide satisfactory cosmetic and functional results. The discussion of the management of patients with intersex disorders continues. Current data challenge the past practice of sex reassignment. Further data are necessary to formulate guidelines and recommendations fitting for the individual situation of each patient. Until then the parents have to be supplied with the current data and outcome studies to make the correct choice for their child.

Diagnosis, Differential↗
PubMed1993

Developmental changes in paramesonephric and mesonephric ducts and the external genitalia in swine fetuses during sexual differentiation.

The paramesonephric (Müllerian) duct was first observed in the vicinity of the mesonephric (Wolffian) duct in 30-day-old swine fetuses of both sexes at the level close to the gonad. The paramesonephric duct extended caudally in parallel with the mesonephric duct on day 35 of gestation. By day 40 the paramesonephric duct reached the urogenital sinus. At this stage, the paramesonephric duct began to degenerate in the male, while it continued to develop in the female. This suggests that an anti-Müllerian duct hormone (AMH) is produced before day 40 of gestation. By day 45 of gestation, the mesonephric duct began to decrease in diameter and was accompanied with the involution of the mesonephros in both sexes. By day 60, the male and female mesonephric ducts reduced in their diameter by 70%. Thereafter, the female mesonephric ducts disappeared, while the male ducts developed again. The sex differences was first observed on day 35 in the differentiation of the external genitalia when a small circular urogenital orifice and the anogenital raphe appeared at the sites caudal to the genital tubercle in the male. Such structures were not present in the female. These results suggest that the fetal pig testis is activated to secrete androgen before day 35 of gestation.

Animals↗
PubMed1977

Abnormal genitalia as a presenting sign in two male infants with hydantoin embryopathy syndrome.

Abnormal genitalia was a salient clinical finding in two unrelated male infants with the hydantoin embryopathy syndrome. Both infants also exhibited hypoplastic nails of fingers and toes, hypertelorism, and a flat nasal bridge, and one had severe developmental retardation. We review previously reported cases of the hydantoin embrypathy syndrome and discuss factors possibly affecting the teratogenicity of phenytoin. Male infants with findings such as the patients of this report need to be differentiated from patients with Noonan syndrome and Aarskog syndrome. We suggest that mothers receiving phenytoin who have given birth to one affected infant should be given a different anticonvulsant for future pregnancies.

Abnormalities, Drug-Induced↗
PubMed1987

Epidemiology of ambiguous genitalia in South America.

We present descriptive epidemiologic data on ambiguous genitalia (AG), obtained in the period 1967-1982 by the Latin American Collaborative Study of Congenital Malformations (ECLAMC) through 70 participating hospitals located in 34 cities of 9 South American countries. The observed prevalence rate for isolated AG was about 1/20,000 births, with at least 1/4 and probably as much as 1/2 due to congenital adrenal hyperplasia. When AG cases associated with other congenital anomalies were also considered, the overall frequency of AG was 1/6,900 total births (1/10,000 for live and 1/350 for stillbirths). The prevalence rates were homogeneously distributed among the different countries, and there was a stable secular trend. AG was more frequent in nontropical than in tropical areas of South America, and there was a significant seasonal variation with its acrophase in August (winter). A case-control analysis of 14 risk factors showed an association of AG with a prenatal history of acute maternal illnesses. These data do not support an etiological relationship between AG and hypospadias.

Female↗
PubMed1989

Two brothers with facial anomalies, microcephaly, hypoplastic genitalia, and a failure of psychomotor development.

We report on 2 brothers from a consanguineous Moslem family with prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and convulsions from birth. Phenotypic anomalies consisted of a prominent glabella, arched eyebrows, a low upswept frontal hairline, a small pinched nose, large posteriorly rotated ears with overfolded upper helices, partial camptodactyly, and widespaced nipples. Psychomotor development was absent, and there was marked failure to thrive. Death occurred at ages 21 days and 7 months, respectively. Postmortem examination on one child showed dilated cerebral ventricles and hydronephrosis. Microcephaly was detectable by fetal ultrasound in one brother at 17 weeks of gestation.

Abnormalities, Multiple↗
PubMed1990

Ambiguous genitalia in the Proteus syndrome.

An 11-year-old girl was followed up since birth because of hemihypertrophy of the left leg and thigh, multiple pigmented nevi and subcutaneous tumors typical of the Proteus syndrome. Because of clitoromegaly and scrotal-like hypertrophy of the labia majora, she had an endocrine evaluation the results of which were normal. The findings are thought to represent local genital hypertrophy. Ambiguous genitalia have to be added to the phenotype of the Proteus syndrome.

Abnormalities, Multiple↗
PubMed1994

Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia.

We present a child with an MCA pattern of sclerocornea, hypertelorism, pterygium colli, upper limb syndactyly, ambiguous genitalia, abnormal ears and nose, umbilical hernia, congenital heart disease, and normal chromosomes (46,XX). Although the defects observed in this case follow the diagnostic criteria for Fraser syndrome proposed by Thomas et al. [1986: Am J Med Genet 25:85-98], we think that this is a different entity.

Abnormalities, Multiple↗
PubMed1994

Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?

We describe a 27-week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely.

Abnormalities, Multiple↗