11/663. The association between Turner's syndrome and juvenile rheumatoid arthritis. BACKGROUND: Turner's syndrome (TS) is a chromosomal disease frequently associated with autoimmune conditions including thyroid disease, inflammatory bowel disease, and diabetes. Recent reports have described an association with juvenile rheumatoid arthritis (JRA) and psoriatic arthritis. We describe three additional cases of TS associated with JRA. OBJECTIVE: The objective of this report is to describe the radiographic and clinical features of TS associated with JRA to heighten awareness of this association and alert radiologists to recognize the superimposition of radiographic bony changes of chronic joint disease and the bone changes of TS. patients and methods. Clinical history and radiographic images of three girls with TS and arthritis were reviewed. The radiographic findings typical of TS and juvenile arthritis are described. RESULTS: Of about 65 patients at our center with Turner's syndrome 3 had JRA (as described in this report), supporting the association between TS and JRA. All our patients who met American College of rheumatology classification criteria for JRA had radiographic and clinical findings consistent with both their JRA and Turner's syndrome. CONCLUSION: We believe that it is important to consider the diagnosis of Turner's syndrome in girls with JRA, recognizing that characteristic radiographic findings such as metacarpal shortening are usually present. Conversely, suspicion of an underlying inflammatory arthritis is warranted in search for radiological findings consistent with JRA in girls with TS and joint symptoms. ( info) |
12/663. Atrial septal defect as an uncommon cardiovascular malformation with Turner's syndrome. Cardiovascular malformations are frequently observed in Turner's syndrome. bicuspid aortic valve and coarctation of aorta are commonly associated with Turner's syndrome while an atrial septal defect is unusual. Here report a rare case of atrial septal defect with Turner's syndrome. ( info) |
13/663. Social, communicational, and behavioral deficits associated with ring X turner syndrome. We describe the cognitive and behavioral characteristics of five individuals with a ring x chromosome. All subjects had a small active (early replicating) ring x chromosome. The X inactive specific transcript (XIST) locus was confirmed by fluorescent in situ hybridisation (FISH) to be present in all ring X chromosomes. Mental retardation was present in four individuals. All patients with or without mental retardation had a characteristic profile of aggression toward self and others, episodes of screaming, attentional problems, and impulsiveness. Autistic-like features were also present in all individuals and included limited communication, obsessive compulsive behavior, and social difficulties. In some cases the obsessive behavior was extreme and incapacitating. This characteristic behavioral profile may aid the diagnosis and future understanding of ring X. ( info) |
14/663. Chronic cholestasis associated with Turner's syndrome. liver abnormalities seem a very rare association in Turner's syndrome, only reported in a few anecdotal cases. We report the clinical and morphological findings in 3 patients who presented with cholestasis. One of them had a definite diagnosis of primary sclerosing cholangitis, in whom the natural history was complicated by the development of two distinct tumors. A review of the few cases described in the literature and our own case reports support the hypothesis that liver disease in Turner's syndrome may have a variety of expressions including cholestasis. ( info) |
15/663. Paternal sex chromosome aneuploidy as a possible origin of turner syndrome in monozygotic twins: case report. The meiotic or mitotic origin of most cases of turner syndrome remains unknown, due to the difficulty in detecting hidden mosaicisms and to the lack of meiotic segregation studies. We have had the opportunity to study one pair of monozygotic twins concordant for turner syndrome of paternal origin. The paternal origin of the single x chromosome was determined by polymerase chain reaction (PCR) amplification. No mosaicism was detected for the X or y chromosome. In this case, a meiotic error during gametogenesis would be a likely origin of X monosomy. To determine if meiotic errors are more frequent in the father of these monozygotic twins concordant for turner syndrome of paternal origin, molecular studies in spermatozoa were conducted to analyse sex chromosome numerical abnormalities. A total of 12520 sperm nuclei from the twins' father and 85338 sperm nuclei from eight normal donors were analysed using three-colour fluorescent in-situ hybridization. There were significant differences between the twins' father and control donors for XY disomy (0.22 versus 0.11%, P < 0.001) and total sex chromosome disomy (0.38 versus 0.21%, P < 0.001). These results could indicate an increased tendency to meiotic sex chromosome non-disjunction in the father of the Turner twins. ( info) |
16/663. Extensive cytogenetic studies of clonality following interferon-alpha therapy in chronic myeloid leukemia occurring in monosomic cells in a patient with turner syndrome mosaic. In a 27-year-old female with turner syndrome mosaic, philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML) occurred only in the monosomic cells (45, Xc). Extensive cytogenetic studies, including triple-color fluorescence in situ hybridization (FISH), revealed that Ph-positive monosomic cells (45, Xc), Ph-negative monosomic cells and normal diploid cells (46, XX) were present in her bone marrow at diagnosis. After successful interferon therapy, the non-leukemia cells expanded and reconstituted normal hematopoiesis resulting in complete cytogenetic response, following the selective suppression of the monosomic Ph-positive leukemia clone. The ratio of Xc to XX cells in bone marrow cells was significantly increased to that in skin fibroblasts. Moreover, the ratio of Ph-positive cells to Ph-negative cells was found to be significantly different between karyotyping and FISH. Studies of this quite unique case not only confirmed the clonality of CML, effectiveness of interferon-alpha and x chromosome imbalance among different tissues, but also demonstrated a discrepant increase of the BCR/ABL-positive clone in CML. The latter supports the hypothesis that reduced programmed cell death may be the primary mechanism responsible for the expansion of the leukemia clone in CML. Our study verifies the importance of extensive analysis of a neoplastic disease in patients with a constitutional chromosomal abnormality. ( info) |
| This is the case report of a girl who was diagnosed as having Ullrich-Turner mosaic at the age of 12 years. She had normal pubertal development and menarche at the age of 15 years. The patient had regular menstrual cycles for 12 months before developing secondary amenorrhea. She was started on estrogen/gestagen replacement therapy by her gynecologist. Several months later a prolactinoma was diagnosed by laboratory and imaging techiques. A second-generation dopamine agonist led to almost regular cycles. Therefore, even in patients with susceptibility to ovarian failure secondary amenorrhea necessitates thorough diagnostic investigation. Copyrightz1999S.KargerAG,Basel ( info) |
18/663. 21-hydroxylase deficiency and Turner's syndrome: a reason for diminished endometrial receptivity. OBJECTIVE: To report a case of cryptic 21-hydroxylase deficiency identified at the time of ovum donation in a patient with Turner's syndrome. DESIGN: Case report. SETTING: University IVF practice. PATIENT(S): A 28-year-old woman with Turner's syndrome who presented for ovum donation. INTERVENTION(S): Four cycles of donor IVF. MAIN OUTCOME MEASURE(S): pregnancy, endometrial appearance, progesterone, and 17-hydroxyprogesterone values. RESULT(S): The patient failed two fresh and two frozen ET cycles with donated oocytes. The appearance of the endometrium suggested elevated progesterone before progesterone supplementation. An elevated progesterone was detected but not suppressed by leuprolide acetate. progesterone was suppressed by adding dexamethasone. The diagnosis of cryptic 21-hydroxylase deficiency was confirmed biochemically. CONCLUSION(S): patients with Turner's syndrome reportedly have poorer outcomes with donor IVF than other women. They also have an increased incidence of carrying a defective 21-hydroxylase gene. We suggest that some of the poorer outcomes may be explained by the presence of elevated progesterone and recommend evaluation of possible congenital adrenal hyperplasia in patients with Turner's syndrome who want oocyte donation. ( info) |
19/663. Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome. Gonadoblastomas are seen almost exclusively in dysgenetic gonads of patients with a chromosomal mosaicism of 45,X and an additional Y-bearing cell line. This paper presents a case of a Turner mosaic patient with 45,X/46,X, mar karyotype, who developed a unilateral microscopic gonadoblastoma. Cytogenetic and molecular analysis confirmed a Y-chromosomal origin of the marker chromosome, with a deletion of the distal Yq arm and the proposed region of a so far undefined gonadoblastoma locus (GBY) present. One of the candidate genes within the postulated GBY region is TSPY (testis-specific protein Y-encoded). To study the TSPY protein expression, an anti-fusion protein antibody was used for immunohistochemistry of the patient's gonads. In contrast to the dysgenetic gonad, an intense immunoreaction was found in gonadoblastoma tumour cells of the other gonad. These results confirm the high level of TSPY protein expression by these cells and demonstrate the value of this antibody as an additional marker to confirm the diagnosis of gonadoblastoma. ( info) |
20/663. Two cases of pilomatrixoma in Turner's syndrome. Multiple and familial cases of pilomatrixomas have been reported in myotonic dystrophy. We report 2 cases of pilomatrixoma in Turner's syndrome. Between 5 and 19 years of age, 1 patient developed 6 pilomatrixomas including atypical occurrences on the chest and the posterior aspect of the leg. This is the first report of multiple pilomatrixomas in Turner's syndrome. copyright (R) 2000 S.Karger AG, Basel ( info) |