A dissecting aortic aneurysm in a female patient with Turner syndrome

Female phenotype, sexual infantilism, small stature and stigmatization are typical for patients with Turner's syndrome (TS). The most frequent cardiovascular manifestations in these patients are a bicuspidal aortal valve and coarctation of the aorta. In 5% patients dilatation of the aorta is found which can develop into a dissecting aneurysm. In the submitted case-history the authors describe a 34-year-old patient where the diagnosis of TS was proved only in adult age at the time when a dissecting aneurysm of the aorta was detected. The submitted case-history supports the recommendation of regular echocardiographic check-up examinations of patients with TS.     

Quadricuspid aortic valve in a patient with Turner syndrome

A quadricuspid aortic valve is an uncommon congenital anomaly that is often associated with other cardiac disorders. Most reported cases of quadricuspid aortic valves are detected incidentally during necropsy or aortic valve replacement and, therefore, the potential clinical course still remains unclear. A case of a 47-year-old woman with grade III to IV aortic insufficiency and mild left ventricular dilation with an end-diastolic diameter of 59 mm is presented. During surgery for aortic valve replacement (Ross procedure), a quadricuspid aortic valve was identified. Two years after the successful Ross procedure, a molecular genetic study of this rare anomaly was performed using karyotyping, fluorescence in situ hybridisation and polymerase chain reaction. Cytogenetic analysis detected chromosomal aberration 45,X0/46,XX, indicating a low-level X chromosome mosaicism; repeat karyotypes were normal. This is the first reported case of a quadricuspid aortic valve in a woman with Turner syndrome.     

Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age

CONTEXT: Little information exists regarding FSH values in very young girls with Turner syndrome (TS). OBJECTIVES: The objective of the study was to evaluate the pattern, natural progression, and karyotype-related differences in FSH secretion in young, prepubertal girls with TS. STUDY DESIGN: FSH was measured at study entry and annually for 2 yr. SETTING: The Toddler Turner study was conducted at 11 U.S. pediatric endocrine centers. STUDY PARTICIPANTS: Eighty-eight girls with karyotype-proven TS aged 9 months to 4 yr participated in the study. MAIN OUTCOME MEASURES: By-karyotype differences in FSH concentration and age-related changes in FSH were measured. RESULTS: Mean (+/- SD) FSH was markedly elevated in the 45,X (n = 56: 68.3 +/- 36.0 IU/liter) and Other groups [n = 15 (excluding three subjects with Y-containing karyotypes): 52.7 +/- 50.8 IU/liter] but was minimally elevated in girls with 45,X/46,XX mosaicism (n = 14: 10.1 +/- 13.5 IU/liter, P < 0.005 both comparisons). Over the 2-yr period, FSH declined in the 45,X group (-13.4 IU/liter.yr, P < 0.0001). Nonetheless, only three of 159 FSH values fell within normal range for age at any time during the 2-yr study. FSH decline was similar in the Other group (-14.3 IU/liter.yr, P = 0.0032). In contrast, no significant decrease in FSH with age was observed in the 45,X/46,XX group. CONCLUSIONS: In contrast to the original report of FSH concentrations in individuals with TS, this study demonstrates distinct differences in patterns of FSH secretion between young girls with monosomy TS, who have persistent elevation of FSH to age 6 yr, and those with 45,X/46,XX mosaicism, whose FSH values suggest retained ovarian function in the majority. These findings have implications for patient management and family counseling.     

Primary biliary cirrhosis in a patient with Turner syndrome.

An increased prevalence of X chromosome monosomy has recently been demonstrated in patients with primary biliary cirrhosis (PBC). Chronic cholestasis of unknown etiology is a common clinical feature in patients with Turner syndrome who reach the fourth and fifth decades of life. A 37-year-old patient with Turner syndrome who presented with clinical and biochemical features of chronic cholestasis is described. Subsequent investigations confirmed the diagnosis of PBC. The patient did not respond to the medical treatment and was referred for liver transplant assessment. The present case may support the importance of X chromosome genes in the development of genetic predisposition to PBC, and emphasizes the necessity for a systematic study of the prevalence of PBC in patients with Turner syndrome.     

Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature

We report on a Japanese female with 45,X[40]/46,X, der(X)[60], primary amenorrhea, and tall stature. She was confirmed to have complete gonadal dysgenesis at 19 yr of age and was placed on hormone replacement therapy. Growth assessment revealed that she had a low normal height until her early teens, but continued to grow with a nearly constant height velocity in her late teens, attaining a final height of 172 cm (+ 2.9 SD), which surpassed her target height range. Fluorescence in situ hybridization analysis for 10 loci/regions on the X-chromosome together with the whole X-chromosome and the Xp-specific and Xq-specific paintings showed that the der(X) chromosome was associated with duplication of roughly distal half of Xp, including SHOX (short stature homeobox-containing gene), and deletion of most of Xq. Microsatellite analysis for eight loci at Xp22 and nine loci at Xq26-28 indicated that the normal X-chromosome was of maternal origin, and the der(X) chromosome was of paternal origin. The results, in conjunction with the adult height data in 47,XXX, 46,XX gonadal dysgenesis, 47,XXY, 46,XY gonadal dysgenesis, and 46,X, idic(Xq-), suggest that the tall stature of this female is caused by the combined effects of SHOX duplication on the der(X) chromosome and gonadal estrogen deficiency. Furthermore, the similarity in the growth pattern between this female and patients with estrogen resistance or aromatase deficiency implies that the association of an extra copy of SHOX with gonadal estrogen deficiency may represent the further clinical entity for tall stature resulting from continued growth in late teens or into adulthood.     

特纳综合征的临诊应对

病例患者K.S.,女,11.5岁,因身材矮小而被发现患有45,X特纳综合征(TS).足月分娩,出生体重3.5 kg(0.21 s),身长50.8 cm(0.59 s).父母发现该女婴有手足肥厚、喂养困难和胃食道反流.     

Ankylosing spondylitis in a patient with Turner syndrome: a case report

Turner’s syndrome (TS) is a chromosomal disorder where phenotypic females have either a missing chromosome (45 X0) or a structural aberration of one of the chromosomes. It is possible for TS to accompany such autoimmune diseases as thyroid diseases, inflammatory intestinal diseases, diabetes mellitus, psoriatic arthritis and juvenile rheumatoid arthritis. Herein, we present an unusual case with Ankylosing spondylitis (AS) and autoimmune thyroiditis associated with TS. We suggest that the possibility that TS patients may also develop such other diseases as AS apart from the already known accompanying autoimmune diseases should not be ruled out when monitoring TS patients.     

Aortic dilation and dissection in a patient with Turner syndrome]

The ascending aortic dilatation and its dissection is a not very frequent finding in patients with Turner syndrome. The high incidency of structural anomalies in the aortic wall and the severity of its complications, makes it necessary to watch these patients very closely. We present an asymptomatic patient, affected with Turner syndrome, ascending aortic dilatation and aortic wall dissection.     

Small intestinal tubular adenoma in a pediatric patient with Turner syndrome

Turner syndrome (TS) is a female chromosomal disorder caused by the lack of an X chromosome. The loss of this chromosome may result in the deficiency of tumorsuppressive or DNA repair genes, leading to tumorigenesis. Recombinant human growth hormone (GH) has been popularly used for treatment in TS patients for growth promotion. Although treatment with GH has been correlated with precancerous and cancerous lesions in TS children, its associations with gastric or colonic tumors, especially ileal tubular adenomas, have not been reported frequently. We here report a case of a 16-year-old patient with TS and tubular adenoma of the small intestine. Whether the ileal adenoma was caused by TS itself or GH therapy was discussed.     

Pulmonary varix mimicking pulmonary arteriovenous malformation in a patient with Turner syndrome

A 36-year-old asymptomatic female with Turner syndrome was referred for a 3-cm opacity of the left lung detected by routine chest X-ray. A computed tomography scan of the chest suggested a vascular lesion such as pulmonary arteriovenous malformation, and transcatheter embolotherapy was considered. The lack of a right-to-left shunt on contrast echocardiography led to suspect an alternate diagnosis. Magnetic resonance imaging and pulmonary angiography eventually demonstrated a pulmonary varix associated with a partial anomalous pulmonary venous return. Contrast echocardiography may help to distinguish between pulmonary varix and arteriovenous malformation.     

Vacuoles,E1 enzyme,X-linked,autoinflammatory, somatic syndrome (VEXAS syndrome) with prominent supraglottic larynx involvement: a case-based review

Clinical Rheumatology - Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) is a recently described genetic disorder that gathers autoinflammatory symptoms and...     

Myelodysplastic syndrome in a patient with a unique constitutional chromosome abnormality t(2;11) (q31;p13).

We present a case of myelodysplastic syndrome (MDS), which developed into an overt leukemic phase in a 15-year-old female with a rare constitutional abnormality [46,XX,t(2;11) (q31;p13)]. The patient entered complete remission after 3 months of chemotherapy. On chromosome analysis during remission, the t(2;11) (q31;p13) abnormality was detected in all metaphases of both the bone marrow cells and PHA-stimulated peripheral blood lymphocytes. Her father also had the same karyotype. This case seems to be of value as a reference for the study of the significance of constitutional chromosome abnormalities in MDS.