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At least 19 recordsLinked to original sources
PubMed2002

Prenatal diagnosis of sex differentiation disorders: the role of fetal ultrasound.

We describe our experience with prenatal diagnosis of sex differentiation disorders, with focus on the role of ultrasound scans for coherent assessment of prenatal diagnosis. Over a 5-yr period all cases suspected of sexual ambiguity based on abnormal ultrasonographic scans (US) or US/genotype US discrepancy were evaluated prenatally by three modalities: 1) repeated fetal US; 2) genetic studies, primarily karyotype and fluorescence in situ hybridization analysis of sex-determining region on the Y gene (SRY); and 3) hormonal assays of amniotic fluid. Of approximately 10,000 gestations, 16 fetuses underwent prenatal evaluation. Twelve were referred because of an abnormal US and 4 because of genotype-phenotype discrepancy. Five fetuses were diagnosed with female pseudohermaphroditism (21-hydroxylase deficiency in 3 and urorectal septum malformation sequence in 2). Four fetuses were diagnosed with male pseudohermaphroditism (1 with steroid sulfatase deficiency, 1 with presumed camptomelic dysplasia, and 2 undetermined). Five cases had chromosomal abnormalities, and 2 had 46,XX+SRY sex reversal. In all genetic females the uterus was observed on US. In 11 cases initial US scan was performed at 13-15 wk; in 7 of 11, although the initial scan was normal, a repeated scan later in gestation revealed an abnormality. Repeated US scans performed at 13-15 and 22-24 wk gestation are a helpful tool in prenatal diagnosis of sex differentiation disorders. Our data suggest that both size and structure anomalies of the reproductive structures may evolve throughout pregnancy, and that they represent a developmental biological process rather than a single nonprogressive pathological event. US scan after approximately 19 wk enables detection of the uterus and provides pivotal information in cases of ambiguity. If the uterus appears normal, the most likely diagnosis is a virilized karyotypic female. Prenatal diagnosis allows for early parental counseling and anticipation of medical management postnatally.

Amniotic Fluid↗
PubMed1992

[Sex differentiation disorders from the andrologic viewpoint].

Abnormal sex differentiation with ambiguous genitalia now leads to prompt and comprehensive diagnostic evaluation in the neonate. If necessary, phenotypic gender assignment is done very early and appropriate surgical correction is performed. Management at puberty and later is more difficult. Andrological guidance at this time covers problems of genital identification, sexuality and fertility. The different types of abnormal differentiation, i.e. genetic, gonadal and phenotypic alterations, may result in different andrological problems, e.g. hypogonadism including micropenis and undescended testes, lack of secondary sex characteristics and impotence. With respect to fertility the major problems are testicular azoospermia and/or congenital abnormalities of the male reproductive tract. Any proposals for treatment have to take account of all these different aspects of pathogenesis and the natural course of the disease. In each case, andrological guidance must be formulated with due consideration for the results of genital determination in childhood, including surgical correction.

Disorders of Sex Development↗
PubMed1983

[Rare structural rearrangement of the Y chromosome (Yq-,S) in the family of a boy with a sex differentiation disorder].

In an 8-year old boy with bilateral cryptorchism the heterochromatin region deletion of Y-chromosome and the satellites in its long arm were found (karyotype 46, XYq-S). The same Y-chromosome was found in proband's father. Moreover, the proband had large brilliant satellites in the chromosome 22 and a very large segment of centromeric heterochromatin in the chromosome 1; both were inherited from his mother. The abnormal Y-chromosome is, probably, due to an exchange with heterochromatin regions between an acrocentric chromosome and Y-chromosome. The combination of above peculiarities of proband's chromosome set is supposed to promote the sex differentiation disorders in embryogenesis which led to an incomplete masculinization.

Child↗
PubMed1984

[Interphase chromatin in lymphocytes in sex differentiation disorders].

Interphase chromatin of peripheral lymphocytes was studied in patients aged 6 to 20 years with Turner and Morris's syndromes by AO labeled fluorometry using the authors' modification of DNP cell thermal denaturation. It was shown that the lymphocyte chromatin melting profiles represent the curves with seven maxima at the following temperatures: 47 degrees, 55 degrees, 65 (+/- 2)degrees, 78 (+/- 1)degrees, 82, 88 (+/- 1)degrees, 92 (+/- 2)degrees C (P less than 0.01). There were no statistically significant differences between clinically and karyotypically different groups either in the parallelism of the melting profiles or in the fluorescence intensity of AO connected with cell DNP. In the male control group, the similar curve was obtained for lymphocyte chromatin in 25 and for normal human spermatozoa in 100% of cases, i.e. deviation specificity was revealed in the lymphocyte melting profiles, from a "classical" normal variant to the so-called male variant with sex differentiation breaks (Turner, Morris and Klinefelter's syndromes). Possible cytogenetic mechanisms of breaks are discussed.

Adolescent↗
PubMedDate not supplied

[Possibilities of ultrasonography in the diagnosis of sex differentiation disorders in children].

Ninety-five children with different forms of hermaphroditism aged 3 months to 14 years were examined to assess the potentialities of echography. Ultrasonic examinations of the kidneys, adrenals, pelvic organs (with full bladder, during and after miction), scrotum, and inguinal area were carried out. Echographic picture of urogenital organs in mixed ovarian dysgenesis, congenital deficiency of testosterone biosynthesis or metabolism due to enzymatic deficit, testicular feminization, congenital adrenocortical dysfunction was analyzed and criteria of differential diagnosis of these conditions discussed. The informative value of the method was assessed. Ultrasonic findings were compared with the data other diagnostic methods and reliability and high sensitivity of ultrasonography was demonstrated.

Adolescent↗
PubMed1993

[Diagnosis of sex differential disorders treatment in teenagers].

Inter-sexuality is diagnosed in the age between 8-19 years in 58.5% among all 253 individuals with the signs of hermaphrodite. The diagnosis requires clinical, hormonal, cytogenetic and sometimes histopathological investigations. At the youthful patients with signs of hermaphrodite there are confirmed in 66.3% different kinds of gonadal dysgenesis, in 15.5% androgen insensitivity syndrome, in 12.2% congenital adrenal hyperplasia, in 3.4% transsexualism and in 1.3% adrenal virilizing tumours. To call attention to the specific and different treatment of every kind of hermaphrodite it is necessary a very early proper diagnosis of the disease.

Adolescent↗
PubMed1998

[Diagnosis and management of patients with sex differentiation disorders: experience at the Unit of Medical Genetics of the University of Zulia, Maracaibo, Venezuela].

Abnormalities of sexual differentiation (ASD) represent a group of entities, heterogeneous in their etiopathogenesis and clinical manifestations. In order to characterize and analyze the epidemiologic, clinical, endocrine and genetic aspects of patients with ASD consulting UGM-LUZ between 1971-1996, the families that had at least one of its members affected were evaluated. Strict diagnostic criteria to each entity were applied. Cytogenetic, hormonal, radiological, echographic and anatomopathological evaluations were done in each patient. From 391 families, 429 patient consulted with ASD. They represent 5.4% of the patient who consulted to UGM-LUZ in the same period. 214 (50%) patients with definitive diagnosis of ASD were identified to fill the established inclusion criteria. The distribution was the following: 139 with anomalies of the sexual chromosomes; 36 with congenital adrenal hyperplasia; 21 with complete androgen insensitivity syndrome; 14 with mixed gonadal dysgenesis; and 4 with true hermaphroditism. 183 (42.7%) patients with male pseudohermaphroditism and 17 (3.9%) with female pseudohermaphroditism were diagnosed as they did not fulfill the established diagnostic criteria. 15 (3.4%) patients presented ASD associated to a polymalformative syndrome. The ASD are very complex entities, they need the participation of an interdisciplinary team for their diagnosis and management process.

Adolescent↗