A six-year-old boy with multiple bone lesions, repeated fractures, and sexual precocity

Article Abstract:

A six-year-old boy with sexual precocity, multiple skeletal deformities and light brown spots was diagnosed with McCune-Albright syndrome. Sexual precocity is the onset of sexual maturity before age nine and can be caused by a gonadotropin hormone dependent or independent mechanism. McCune-Albright syndrome is a form of gonadotropin-independent sexual precocity associated with multi-system defects. The boy had a 10-month history of facial acne, apocrine sweat, pubic hair growth, genital enlargement, mood swings and accelerated growth. He had suffered three fractures to his right leg following minor accidents at ages three, four and five. He had a testosterone level and genital size typical of mid-puberty and bone age typical of a nine-year-old. X-rays revealed polyostotic fibrous dysplasia, which is a bone disease. The boy's lack of gonadotropin pulsations indicated his sexual precocity was gonadotropin independent. McCune-Albright syndrome's association polyostotic fibrous dysplasia and cafe-au-lait spots explains his other defects.

Cases, Fibrous dysplasia of bone, Precocious puberty

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Knockout mice

Article Abstract:

Knockout mice have been invaluable in studying the function of many genes. Knockout mice have had an entire gene inactivated by deleting both the paternal and maternal copy of the gene. This is done by introducing into embryonic mouse cells genetically engineered DNA that matches the nucleic acids flanking the gene but contains a gene for antibiotic resistance instead of the gene to be inactivated. During DNA recombination, the gene for antibiotic resistance will replace the gene to be inactivated in the cell's DNA. Not all of the cells will have the knockout gene, so the cells are incubated with the antibiotic, which will kill all cells except the ones that have the knockout gene. These cells are injected into blastocysts, which are implanted into female mice and develop into embryos. When the mice are born, they are mated with each other to create mice that have the knockout gene on both paternal and maternal chromosomes.

Methods, Genetic aspects, Mice as laboratory animals, House mouse, Genetic research, Animal genetic engineering

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Transvaginal ultrasonography compared with endometrial biopsy for the detection of endometrial disease

Article Abstract:

Transvaginal ultrasound can detect endometrial thickening, but may not be useful in screening women on hormone replacement therapy for serious disease. Hormone replacement can cause thickening of the uterine lining, particularly with high-dose estrogen. Researchers reviewed endometrial biopsies and ultrasound results from 577 examinations in 448 women taking hormone replacement or placebo. Ultrasound was poor at detecting cancer and precancerous changes in the endometrium. Ultrasound cannot differentiate serious disease from simple thickening.

Evaluation, Ultrasound imaging, Diagnosis, Complications and side effects, Hormone therapy, Estrogen, Estrogens, Endometrium, Endometrial biopsy, Endometrial hyperplasia

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