Temporal bone pathology in fetuses exposed to isotretinoin.

Isotretinoin can be teratogenic, affecting many tissues, including the ear. However, there are only two histopathologic studies of the temporal bone in affected humans, and neither describes the findings in early gestation. We had the opportunity to study both temporal bones in each of two fetuses (22 and 24 weeks) exposed to isotretinoin in early gestation.

Gonadal pathology in triploidy.

There are numerous reports describing the pathology of the fetus and placenta in triploidy. Although gonadal pathology is described in many of these reports, consistent changes have not been noted nor is it clear whether genital ambiguity can be considered part of the triploid phenotype. We present a case of triploidy of probable diandric origin, in which there were dysgenetic gonads with abnormal seminiferous tubules, nodules of undifferentiated stroma, and focal absence of the tunica albuginea.

Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.

We report two cases of renal tubular dysgenesis (RTD) with calvarial hypoplasia and review the originally reported cases of RTD that came from our institution and published reports regarding the association of RTD and skull abnormalities. Although previously reported in association with RTD, calvarial hypoplasia is probably under-recognised. The cases reported here support the idea that the skull abnormalities observed in the inherited form of renal tubular dysgenesis are a common component of the disorder, as they are in the acquired form of RTD associated with maternal use of ACE inhibitors.

Placental pathology of triploidy.

Triploidy is a common chromosome abnormality in spontaneous abortions. Previous studies of spontaneous abortions have suggested that approximately 85% of triploid abortuses show the placental changes of partial hydatidiform mole (PHM) and that this appearance was associated, possibly attributable, to paternal origin of the extra haploid set of chromosomes. More recent work, however, has shown that most triploidy is the result of digyny--the extra set of chromosomes originating from the mother.

Gonadal tumors in disorders of sexual differentiation.

Objective: To study the prevalence and distribution of gonadal tumors in patients with disorders of sexual differentiation.

Methods: Retrospective review of pathologic materials and clinical data on all patients diagnosed with mixed gonadal dysgenesis, pure gonadal dysgenesis, androgen insensitivity, and true hermaphroditism between 1982 and 1990.

Results: Twenty-one patients were identified and all underwent bilateral gonadectomy at the time of diagnosis.