Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002453 (amenorrhea)
 6,245 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The present study describes the cytogenetic findings in cases suspected with chromosomal abnormalities, in cases of mental retardation, multiple congenital malformations, clinical features of Down's syndrome, Klinefelter's syndrome, Turner's syndrome, ambiguous sex, sterility, amenorrhea and history of repeated spontaneous abortions in couples. Cytogenetic studies were done in 144 of the total 205 cases. In all, 57 (39.58%) were shown to have chromosomal abnormality and of these, 34 cases (25.7%) were Down's syndrome. Sex chromosome abnormality was found in 19 cases (13.2%). The results confirm the significant contribution of chromosomal abnormalities in the genesis of mental retardation, and abnormal sexual development.
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PMID:Cytogenetic studies in a population suspected to have chromosomal abnormalities. 224 22

This report documents the outcome of two pregnancies is a woman with phenylketonuria (PKU) who was treated with a low phenylalanine diet before conception and during pregnancy. Her first pregnancy resulted in an abortion at 17 wk. During the second pregnancy the patient was unable to maintain the right diet consistently, and her blood phenylalanine levels in the first and second trimester were elevated. This pregnancy ended in the birth of a growth retarded microcephalic infant after an amenorrhea of 42 wk. The infant has maintained a normal growth velocity below the tenth percentile, and has not shown signs of mental retardation.
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PMID:Maternal phenylketonuria: the outcome of pregnancy. 733 7

We report a classical case of Prader-Willi syndrome (PWS) in an adult with typical interstitial deletion of chromosome 15, and emphasize the study of hormonal change. This 21-year-old female had PWS face characteristics, small hands and feet, marked obesity, mental retardation, growth retardation, absence of puberty and amenorrhea. She also had the characteristic history of infantile hypotonia, poor feeding, failure to thrive and then improved appetite, followed by obesity from the age of four years. She had compulsive hyperphagia, to the extent of stealing and lying to take food. Chromosome study with high resolution banding technique revealed a small interstitial deletion at band q12 of chromosome 15, which is characteristically found in a majority of patients with PWS. Hormonal study revealed hypogonadism and growth hormone deficiency of supposed hypothalamic origin. She also had non-insulin-dependent diabetes mellitus with decreased pancreatic insulin reserve.
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PMID:Hormonal change in an adult with Prader-Willi syndrome: report of a case. 791 75

Two hundred and fifty-five mentally retarded women (cases) and their age-matched control women with no mental retardation (controls) requiring the assistance of a gynecological consultant were studied. Reasons for consultation, heights, weights, blood pressures, smoking histories, medications, gynecological findings and therapeutic measures recommended after examination were recorded. In comparison to the group of non-mentally retarded control women the group of mentally retarded women had no deliveries at all, the number of pregnancies was 118.3 times less (p < 0.001), abortion 20 times less (p < 0.01), gynecological laparotomies 4.3 times less (p < 0.05) and diagnostic curettages 25.7 times less often (p < 0.001), but the number of lynestrenol induced therapeutic amenorrhea (TA) 123 times more (p < 0.001), anticonvulsive drug therapy 91 times more (p < 0.001), polypharmacy 22 times more (p < 0.01) and virginal gynecological status 11.7 times more often (p < 0.001). Further, among the mentally retarded cases than non-mentally retarded controls, contraception was 58 times less (p < 0.05), not smoking 1.2 times (p < 0.001), the incidence of genital infections 2.9 times and tumors of all kind 4.6 times less common (p < 0.001). Of the present mentally retarded women 67.5% had at least once in their life received lynestrenol for TA. Autopsy confirmed arterial diseases occurred in two out of four mentally retarded patients aged 44 and 45 years, who were current lynestrenol users and died during the study period. Therapeutic amenorrhea exhibited a clinical picture of depressed pituitary gonadal axis.
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PMID:Gynecological problems of mentally retarded women. A case-control study from southern Finland. 839 28

We report on eight patients from seven different families affected with a syndrome which includes thumb defects, short stature, microcephaly, and mental retardation. Most of the patients had additional malformations, in particular amenorrhoea and azoospermia in the adults. There were no haematological manifestations and the chromosomes were normal without evidence of breakage even after stimulation. In five of the cases the probands' mother received hormonal treatment before or at the beginning of her pregnancy or both. The syndrome may be inherited as an autosomal recessive trait since the patients included both males and females and their parents were related in most cases. In addition, supporting this possibility, they all originated from a small village which may be considered as an isolate. However, in all cases but one, only one person was affected in each family and there was a significant apparent excess of healthy sibs of the probands. These observations may be the result of the variability of the syndrome or a more complex type of inheritance.
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PMID:A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism. 935 Aug 12

An autopsy case of a patient with diffuse brainstem glioma associated with Laurence-Moon-(Bardet-)Biedl syndrome is described. The subject was a 25-year-old woman who had been suffering from mental retardation, pigmented retinopathy, obesity, hexadactyly, amenorrhea and renal cysts. She developed dizziness, headache and consequent consciousness disturbance. Magnetic resonance images disclosed marked swelling of the pons without contrast enhancement. By means of combined chemotherapy and radiation, she survived for 15 months. Histopathological diagnosis for postmortem specimens obtained from the brainstem was glioblastoma multiforme. No pathogenetic association between the syndrome and brainstem gliomas is known, and the literature contains no cases of patients with this coincidence.
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PMID:Diffuse brainstem glioma in a patient with Laurence-Moon-(Bardet-)Biedl syndrome. 1118 44

This paper focuses on the influence of maternal nutrition on infant survival and growth and on subsequent fertility. During pregnancy, modifications in the maternal hormonal system help maintain availability of nutrients to the fetus relatively independently of maternal nutrition. When maternal dietary deficiencies reach critical levels, the effectiveness of these mechanisms in maintaining fetal nutrition decreases. Studies have confirmed the correlation of severe maternal malnutrition and lowered birth weight, neurological disorders, impaired physical growth, mental retardation, and poor school performance. Marginal nutritional status affects milk production capacity. The basis of most recommendations for lactating mothers is that the average mother produces 850 ml of milk each day. Depending on the anticipatory reserves of fat from pregnancy still available and the level of physical activity of the mother, from 2750 to 3300 Kcal/day may be needed. When the mother's energy intake is good, milk fat resembles that of her dietary fat, but when there is a shortage of food energy, the milk fatty acid pattern resembles the mother's subcutaneous fat stores. The lactose content and overall protein content of milk seem stable despite changes in the maternal diet, but the vitamin content, particularly water soluble vitamins, is very sensitive to dietary intake. Birth weight has consistently been found to be associated with infant mortality through 2 main mechanisms: maternal malnutrition may lead to a smaller placental size and decreased nutrient supply to the fetus, resulting in developmental retardation during intrauterine life, or maternal malnutrition may result in suboptimal lactation performance which will contribute to malnutrition and growth retardation of the child. Maternal nutritional status has an independent effect on the duration of postpartum amenorrhea. Improving maternal diet without concurrently introducing contraception may shorten the birth interval and consequently elevate the birthrate.
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PMID:Maternal nutrition, infant health, and subsequent fertility. 1226 49

This comprehensive review includes results of studies on the relationships maternal and child health and fertility and hypotheses on their interactions from a programmatic viewpoint. Child mortality is high for 1st born, low for the 2nd and 3rd child, and increases with parity after the 4th. Infant survival is lowest when the birth interval is 1 year or less. The frequency of low intelligence, mental retardation, malnutrition, and infections increase with family size. Maternal mortality and morbidity increase with parity. Rapid population growth and density is correlated with infections, such as tuberculosis and social pathology, such as schizophrenia. The relationship between health and fertility is complex, since in the absence of family planning, improved health decreases mortality and morbidity, and increase fertile life span. Amenorrhea in general and during lactation lasts longer during malnutrition, but lactation is likely to be more successful in healthy women. It is probably more efficient in personnel, facilities and transportation to combine maternal and child health and family planning services. The work would be more stimulating, and the clients more likely to trust a familiar person. In the prenatal, postpartum, and postabortion periods women are motivated to accept both services. It is said that education and services in infant health will convince people to start planning their families: a few epidemiologic and longitudinal studies support this hypothesis. Probably incentive programs are less cost-effective than combining family health and planning services.
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PMID:[Interactions between health and population]. 1233 84

The prognosis of patients with acute lymphoblastic leukemia (ALL) and central nervous system (CNS) relapse has historically been very poor. Although chemo-radiotherapy has improved outcomes, some patients still have a poor prognosis after CNS relapse. Therefore, allogeneic hematopoietic stem cell transplantation (allo-SCT) has recently become an option for treatment of CNS leukemia; however, information, particularly on the long-term outcome of transplant recipients, is limited. We performed allo-SCT in eight pediatric patients with ALL (n=7) or T-cell type non-Hodgkin's lymphoma (n=1), who had isolated CNS relapse. All patients survived for a median of 70.5 (range, 13-153) months after SCT. Sequelae developed late in some patients: mental retardation (IQ=47) in one patient, severe alopecia in two patients, limited chronic graft-versus-host-disease in three patients, and amenorrhea and/or hypothyroidism in three patients. Except for a pre-school child with post transplant CNS relapse, six out of seven patients show normal school/social performance. Our results clearly indicate a high cure rate of isolated CNS relapse by allo-SCT in pediatric lymphoid malignancies; however, there needs to be further studies to determine which are the appropriate candidates for transplantation and what is the best transplant regimen to achieve high cure rate and maintain good quality of life.
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PMID:Allogeneic stem cell transplantation in children with acute lymphoblastic leukemia after isolated central nervous system relapse: our experiences and review of the literature. 1624 16

Premature ovarian failure (POF) is the occurrence of hypergonadotropic hypoestrogenic amenorrhoea in women under the age of 40 years. POF is idiopathic in 74-90% of cases but can be familial (4-33%) or sporadic. The known causes are: genetic aberrations; autoimmune ovarian damage; iatrogenic following surgery, radiotherapy or chemotherapy; environmental factors (viruses, toxins, etc.); and metabolic (galactosaemia, 17 OH deficiency, etc.) Genetic aberrations could involve the X chromosome (monosomy, trisomy or translocations) or be autosomal. Genetic mechanisms include reduced gene dosage and non-specific chromosome effect impairing meiosis, decreasing the pool of primordial follicles and increasing atresia due to apoptosis or failure of follicle maturation. The genes for POF-1 are localized to Xq 21.3-Xq27 and for POF-2 to Xq13.3-21.1. The FMR1 gene is responsible for the fragile X syndrome. It occurs due to CGG expansion of more than 55 repeats at the 5'UTR (Xq 27.3), which is associated with gene silence resulting in mental retardation in males, and POF in female carriers. Autoimmune ovarian damage is caused by the alteration of T-cell subsets and T-cell-mediated injury, increase of autoantibody producing B-cells and a low number of effector suppressor/cytotoxic lymphocyte and a decrease of number and activity of natural killer cells. POF can be associated with other non-endocrine and endocrine diseases. The mutations of AIRE gene are responsible for polyendocrinopathies (APS I-III). As the cause of POF is unknown in the majority of cases and the number of women with POF is increasing, the primary goal of scientific groups worldwide should be focused on the study of the aetiology of POF.
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PMID:Aetiology of premature ovarian failure. 1946 73


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