1/7. Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.We report a mother and two daughters with partial Xp monosomy. Clinical assessment for Turner phenotype revealed that the three females manifested low-normal to mild short stature (-1.6 to approximately -2.3 SD) and variable degrees of skeletal features, such as cubitus valgus, short 4th matacarpals, and Madelung deformity, but no soft tissue or visceral anomalies or gonadal dysfunction. Cytogenetic studies for lymphocytes showed that the karyotype was 45,X[3]/46,X,del(X)(p21.1)[27] in the mother and non-mosaic 46,X,del(X)(p21.1) in the two daughters. fluorescence in situ hybridization and microsatellite analyses for 19 loci/regions on the x chromosome demonstrated that the del(Xp) chromosome was missing SHOX and had the breakpoint between DMD and CYBB. The results are consistent with the recently proposed notion that haploinsufficiency of SHOX results in not only short stature, but also Turner skeletal features in association with maturational effects of gonadal estrogens. The lack of soft tissue or visceral anomalies suggests the presence of the putative lymphogenic gene on the del(Xp) chromosome; the preservation of ovarian function appears to be compatible with meiotic pairing failure being relatively mild.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
2/7. Menstrual function in Turner's syndrome.This report describes 2 patients with menstrual dysfunction associated with a 45,X0 karotype. One patient had 2 pregnancies before becoming oligomenorrheic. The other had dysfunctional uterine bleeding associated with excessive estrogen production by her streak gonads.- - - - - - - - - - ranking = 2keywords = dysfunction (Clic here for more details about this article) |
3/7. Aortic regurgitation and pigmentation - unusual features of noonan syndrome.A patient with typical features of Noonan's syndrome showed aortic regurgitation and widespread diffuse hyperpigmentation, features not previously associated with this syndrome. Detailed endocrine and dermatological studies failed to delineate the cause of hyperpigmentation. In addition to mild aortic regurgitation, cardiac catheterization revealed mild left ventricular dysfunction, probably due to primary myocardial disease. Other interesting findings included lymphedema and sexual infantilism despite normal testosterone levels.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
4/7. Toxicity and outcome of intensive chemotherapy for acute lymphoblastic leukemia complicated with Turner's syndrome.A 17-year-old woman was diagnosed as acute lymphoblastic leukemia (ALL). As she had chromosomal abnormalities of 44, XO, der(9)t(3;9)(q11;p13), der(10;19)(q10;p10), del(15)(q15), -16, -19, 22 with the presence of ovarian dysplasia and abnormal physical features, a diagnosis of Turner's syndrome was made. She received an induction chemotherapy, which consisted of daunorubicin, cyclophosphamide, vincristine, L-asparaginase and prednisolone. Although, severe liver dysfunction was observed, the patient achieved a complete remission (CR) on day 31 following chemotherapy and has maintained CR for more than five years. The recording of such cases may well be of value to clarify toxicity and outcome after chemotherapy for patients with ALL complicated with Turner's syndrome.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |
5/7. Oral-motor dysfunction and feeding disorders of infants with turner syndrome.The oral-motor function of 10 infants with turner syndrome and their age- and sex-matched controls were assessed during feeding. In addition to well-recognised dysmorphic features, including oral anomalies and high-arched palates, index infants had marked hypotonia of the cheeks and lips, dysfunctional tongue movements and poorly developed chewing skills. Their meal-times were significantly shorter than those of the controls and they weighed significantly less at six, 12 and 15 months. All mothers of infants with turner syndrome complained of difficulties feeding their children and these problems often had been present since birth.- - - - - - - - - - ranking = 5keywords = dysfunction (Clic here for more details about this article) |
6/7. A family of familial hypercholesterolemia with cerebral infarction and without coronary heart disease. An unusual case with corneal opacity, polyneuropathy and carpal tunnel syndrome in the family: therapy with probucol and tocopherol nicotinate.A study is presented of a 48-year-old female patient and her three siblings with familial hypercholesterolemia. The family members had episodes of cerebral infarction and apparently had atherosclerosis of the internal carotid artery, but no coronary heart disease due to their almost normal level of cholesterol. The laboratory studies of the family members revealed the elevations of serum lipid peroxides, serum lipoprotein(a), leukotriene c4 in blood, the thromboxane b2/6-keto-prostaglandin F1 alpha ratio in plasma and serum hydroxyl radical. Therefore, it is suspected that these factors accelerating atherosclerotic process caused the cerebral infarction. The patient demonstrated corneal opacities, palpebral xanthomas, thickened Achilles tendons, polyneuropathy and the carpal tunnel syndrome. Laboratory studies revealed an elevation in the OKT4/8 ratio, monocyte dysfunction with respect to phagocytosis and chemotaxis, and the presence of the 46XX/45XO mosaic chromosome. Lipid deposits were observed in the achilles tendon, the transverse carpal ligament, the Schwann's cells and axons of the sural nerve, and in the keratocytes and stroma of the cornea. Following the administration of tocopherol nicotinate and probucol, the patient's serum lipid peroxide normalized and there was improvement in her palpebral xanthomas, thickening of the Achilles tendons and polyneuropathy. We conclude that the lipid deposits in this patient were due to the abnormal oxidative metabolism of low-density lipoprotein and a disturbance of the scavenger pathway due to the monocyte dysfunction.- - - - - - - - - - ranking = 2keywords = dysfunction (Clic here for more details about this article) |
7/7. Effect of anorexia nervosa on gonadotrophin secretion in a patient with gonadal dysgenesis.The 11th documented concurrence of anorexia nervosa (AN) and XO-gonadal dysgenesis (GD) is reported. This is the first endocrine study of such a disease combination. The patient, a 15-year-old girl, has been followed since early childhood and comprehensive endocrinological investigation were performed before, during and after the episode of AN. The dynamic changes in the thyroid and pituitary hormones were in concordance with those already observed by us as well as by others in patients with AN. The most remarkable observations concerned the gonadotrophin secretion: during the anorectic episode basal levels and peak responses to LRH and both LH and FSH were seen to decrease from the hypergonadotrophic range to the normal prepubertal range whereas after recovery from AN and regain of weight these rose back to castration levels. AN would seem to be the only condition yet known able to abolish temporarily the hypergonadotrophic state of GD, a fact favouring the hypothesis that AN is associated with a reversible hypothalamic dysfunction. It is assumed that this disturbance is due to nutritional as well as to psychological factors. The significance of the coexistence of AN and GD is discussed and it is suggested that psychological factors in GD may be implicated in this association.- - - - - - - - - - ranking = 1keywords = dysfunction (Clic here for more details about this article) |