Inherited defects in DNA repair are rare genetic conditions characterized by hypersensitivity to endogenous and exogenous DNA damage. Double-strand break (DSB) is the most severe form of DNA damage which can induce gross chromosomal rearrangements such as translocations, deletions, duplications, and complex genomic aberrations, triggering permanent cell cycle arrest and, ultimately, the death o...

In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. AMH is secr...

Abnormal children of two 47,XYY men were studied. One of these men had 2 normal daughters and a child, 45,X/46,XY, with gonadal dysgenesis. The other man had 2 normal sons and a child with Down's syndrome. The extra chromosome 21 of this child came from the mother. Another 47,XYY man had 4 normal children.

A female patient with classical gonadal dysgenesis associated with Graves' disease is reported. The karyotype was mosaicism of 45,X/46,X,i(Xq). The relationship among Graves' disease, Hashimoto's thyroiditis and Turner's syndrome is discussed along with a review of the reported cases.

Genetically susceptible cells in culture can be transformed by oncogenic viruses. Quantitative assay methods have been developed for estimating the frequency of transformation. In an attempt to estimate the susceptibility to transformation of cells from cancer patients with XY-gonadal dysgenesis, fibroblasts from two such patients were infected with simian papovavirus 40, and transformation fre...

Minifascicular neuropathy (MN) is an extremely rare developmental malformation in which peripheral nerves are composed of many small fascicles. Only one patient with MN with 46XY gonadal dysgenesis (GD) was found to carry a mutation affecting the start codon in desert hedgehog (DHH). We identified an identical novel rearrangement mutation of DHH in two consanguineous families with MN, confirmin...

Serum FSH and LH levels in 104 patients with disorders of sexual development were determined by radioimmunoassay and compared with serum FSH and LH levels in 164 normal individuals.32 of 35 gonadal dysgenesis patients (ages 4.8-18.9 yr) had serum FSH levels which were elevated above the range of normal for chronological age, and 19 had serum LH levels similarly elevated. All patients with eleva...

The proband was evaluated at 19 years of age because of primary amenorrhoea and, on chromosomal analysis, was found to have a 46,XY karyotype in 75% of her cells and 48,XY, +8, +21 in 25% of her cells. She appeared normal at birth and exhibited normal intellectual and physical development until puberty when secondary sexual differentiation failed. This young women showed none of the dysmorphic ...