Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 19-year-old female with Poland's Syndrome with associated left amastia, scoliosis, and left Sprengel deformity developed secondary amenorrhea from premature ovarian failure. Her menarche was at 13 years of age, and periods were regular and monthly until 15 years of age when her periods suddenly stopped. Her hormonal evaluation was significant for elevated FSH (46.5 mIU/ml) and LH (28.5 mIU/ml), and low estradiol (23 pg/ml). Anti-ovarian antibody level was less than 2 units (normal < 4 units). Her chromosomes were 46XX, by both standard karyotype and by fluorescence in situ hybridization. On transabdominal and transvaginal ultrasonography, ovaries were not visualized, the uterus was of normal size and anteverted and both kidneys were normal. The patient began hormone replacement therapy with conjugated estrogen (Premarin) 0.625 mg po daily and progestin (Provera) 5 mg on days 20 to 25. Because of menopausal symptoms, she was switched to a combination oral contraceptive (OC) with 20 mcg ethinyl estradiol that was eventually increased to 30 mcg. Her menopausal symptoms (hot flashes and sweating) improved on the continuous 30 mcg ethinyl estradiol combination OC. Following a comprehensive review of the literature, this is the first reported case of Poland's Syndrome associated with premature ovarian failure; however, this association may be coincidental.
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PMID:Poland's syndrome and premature ovarian failure. 1560 81

The developmental and clinical aspects in the literature on triple X syndrome are reviewed. Prenatal diagnosis depends on karyotyping. The incidence is 1 of 1000 females. At birth, 47,XXX girls have a lower mean birth weight and a smaller head circumference. Triple X diagnosis was not suspected at birth. The maternal age seems to be increased. Toddlers with triple X syndrome show delayed language development. The youngest girls show accelerated growth until puberty. EEG abnormalities seem to be rather common. Many girls show motor-coordination problems and auditory-processing disorders are not rare. Scoliosis is probably more common in adolescent cases. The IQ levels are 20 points below that of controls, and verbal IQ is lowest. The girls struggle with low self-esteem and they need psychological, behavioural and educational support. They perform best in stable families. After leaving school they seem to feel better. In adults, premature ovarian failure seems to be more prevalent than in controls. MRIs of the brain seem to show decreased brain volumes. The 47,XXX women most often find jobs that reflect their performance abilities. Psychotic illness seems to be more prevalent in triple X adult women than in controls. Psychotic disorders respond well to psychotropic drugs. Triple X adults suffer more frequently from cyclothymic and labile personality traits. Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc.
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PMID:Triple X syndrome: a review of the literature. 1956 71

A 16 year-old girl with pentasomy X mosaicism (47,XXX(1) 48,XXXX(12)/49,XXXXX) presented with primary amenorrhea. She had epicanthal folds, long philtrum, high-arched palate, facial asymmetry, short webbed neck, low posterior hairline, mild scoliosis, cubitus valgus, mental retardation and clinodactily. She was diagnosed with osteoporosis and premature ovarian failure.
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PMID:Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure. 2165 7