Hirsutism. Pathophysiology, clinical evaluation, treatment.

Hirsutism is generally an androgen-mediated disorder. Tremendous progress has been made in elucidating the numerous clinical disorders that can cause it. Systematic evaluation of hirsute women must be directed at determining the cause of hyperandrogenemia, which in turn allows specific and effective therapy to be initiated.

Effective handling of health-related leaves of absence.

This article will address the legal obligations of employers in non-union settings toward employees who request pregnancy leave, parental or medical leave, workers' compensation leave, and other forms of disability leave. Specifically, this article will address the legal standards set forth under the Pregnancy Discrimination Act, various state pregnancy and family leave acts, workers' compensation retaliatory discharge authority, and the Americans With Disabilities Act of 1990. In addition, this article will provide practical guidance for employers in formulating effective leave policies that provide the maximum amount of operational flexibility while at the same time minimizing the risk of costly and excessive litigation.

Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.

BACKGROUND: Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characterized by sparse and short hair, heralding progressive degeneration of the retinal pigment epithelium, which leads to blindness by the second decade of life. The disorder is caused by mutations in CDH3, a gene encoding P-cadherin, a major component of adherens junctions. Most HJMD cases reported to date have been shown to be caused by homozygous CDH3 mutations segregating in consanguineous families. AIM AND METHODS: To elucidate the genetic basis of HJMD in two nonconsanguineous families, we established the coding sequence of CDH3 in four patients and their healthy siblings. RESULTS: The four patients demonstrated markedly variable degrees of visual acuity impairment. Novel biallelic recessive mutations were identified in all affected individuals. One patient in the first family was found to carry two heterozygous mutations, IVS2 + 1G-->A and p.E504K; the other three patients in the second family were compound heterozygous for a missense mutation, p.H575R, and a nonsense mutation, p.R221X. CONCLUSION: This paper expands the spectrum of known mutations in CDH3 and points to the existence of clinical heterogeneity in this syndrome.