Lipid levels in former gestational diabetic mothers.

Objective: To investigate lipid levels in former gestational diabetic mothers, 5-6 years postpartum, and to evaluate the relationship of these values to glucose, insulin, BMI, and blood pressure.

Research Design And Methods: The subjects studied were 56 former gestational diabetic mothers and 48 control mothers 5-6 years postpartum. Two hours after a 50-g carbohydrate meal, total cholesterol (TC), triglycerides (TG), HDL and LDL cholesterol, glucose, and insulin were measured and compared between the two groups (analysis of variance).

A combined cytogenetic and molecular approach for diagnosing delayed puberty.

A phenotypic female aged 15 4/12 years was referred because of delayed puberty and short stature. Chromosomal analysis of peripheral blood leukocytes revealed two subpopulations of cells. The modal cell line was hypodiploid with a missing X chromosome while the other cell line was diploid with one X chromosome and a G-sized chromosome that resembled a Y chromosome in morphology.

Assessment of sex chromosome composition using fluorescent in situ hybridization as an adjunct to GTG-banding.

Fluorescent in situ hybridization (FISH) using dual color X chromosome- and Y chromosome-specific probes was employed to assess further the sex chromosome copy number in cells of a phenotypic female patient with hypergonadotropic hypogonadism, primary amenorrhea and growth retardation. The GTG-banding analysis of peripheral blood lymphocytes had revealed the presence of predominantly 46,XY cells. A FISH analysis, undertaken to assess further the contribution of a minor cell line, yielded frequencies of 87% cells with the 46,XY constitution and 9% with the 45,X constitution.

Velo-facio-skeletal syndrome in a mother and daughter.

We present a woman and her daughter with an apparently new short stature syndrome associated with facial and skeletal anomalies and hypernasality. Manifestations included hypertelorism with broad and high nasal bridge, epicanthal folds, narrow and high arched palate, mild mesomelic brachymelia, short broad hands, prominent finger pads, hyperextensibility of hand joints, small feet, nasal voice, and normal intelligence. The mother had short stubby thumbs and the daughter had posteriorly angulated ears and delayed bone age.

Clinical response of alopecia, trichorrhexis nodosa, and dry, scaly skin to zinc supplementation.

Two unrelated patients had dry brittle hair, alopecia, trichorrhexis nodosa, dry scaly skin, pigment dyschromia, short stature, and neurosecretory growth hormone deficiency. By means of the zinc tolerance test, patient 1 was shown to have zinc deficiency, whereas no clear zinc deficiency could be demonstrated in patient 2. In both patients, hair and the skin abnormalities responded to oral zinc therapy.

Diagnosis and management of patients with ambiguous genitalia.

Ambiguous genitalia in the newborn is an emergency requiring a multidisciplinary approach to diagnosis and management. The differential diagnosis includes gonadal differentiation disorders, female pseudohermaphroditism, and male pseudohermaphroditism. The initial evaluation includes a history, physical examination, radiologic studies, and a karyotype, with subsequent specifically directed laboratory tests.

Laparoscopic adnexectomy in a prepubertal Turner mosaic female with isodicentric Y.

Laparoscopic adnexectomy was performed in a prepubertal girl with mosaic Turner's syndrome containing an isodicentric Y chromosome. Cytogenetic analysis of lymphocytes and streak gonads are discussed.