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Biomedical subjects

E Lieber

Publications and source records attributed to E Lieber.

At least 37 records · Page 2Linked to original sources
PubMed1978

Hazards of amniocentesis: an unidentifiable fragment.

A 38-year-old woman had amniocentesis performed for advanced maternal age. The karyotype of the cultured amniotic fluid cells showed a minute fragment in all cells analyzed, 47,XY+Fg. The fragment could not be identified. For medical reasons the pregnancy had to be terminated at 34 weeks. Both skin and blood cultures from the aborted fetus showed a 47,XY,21+ karyotype.

Abortion, Induced↗
PubMed1976

Serologic detection of a y-linked gene in xx males and xx true hermaphrodites.

To test the hypothesis that H-Y antigen (present on both somatic and germ cells in normal males but not normal females) is essential for testicular differentiation, we studied four XX males and three XX true hermaphrodites. Blood cells from six subjects and cultured gonadal fibroblasts from a seventh expressed H-Y antigen. Since expression of this antigen requires the presence of a gene normally carried by the Y chromosome, this gene, and perhaps additional Y chromosomal material, should have been present in the genome of these subjects. In one patient this presence is accounted for by a Y-to-X translocation, detectable by chromosome banding. In another a normal Y chromosome was present in a minor population of cells. In the remaining five, no karyotypic abnormality was detectable. Immunologic detection of H-Y antigen is a sensitive test for the presence of the Y chromosome or of its male-determining segment.

Adult↗
PubMedDate not supplied

Isolated hypogonadotropic hypogonadism in a man with a history of head trauma during childhood.

OBJECTIVE: To report a case of isolated hypogonadotropic hypogonadism as a delayed consequence of major head injury. METHODS: We present the relevant history, findings on physical examination, and results of laboratory evaluation, and supportive data from appropriate reports in the literature are reviewed. RESULTS: A 37-year-old man with progressive loss of libido, impotence, and gradual loss of facial and axillary hair had sustained severe trauma to the head (sufficient to cause blindness in one eye) in a fall from a tree at 7 years of age. Physical examination and laboratory investigations substantiated the presence of isolated hypogonadotropic hypogonadism. Other causes of hypogonadotropic hypogonadism, including Kallmann's syndrome, were excluded. CONCLUSION: Severe head injury should be considered in the differential diagnosis of isolated hypogonadotropic hypogonadism. Long-term follow-up and endocrine assessment may be important in patients who have sustained severe head injury.

Journal Article↗