BACKGROUND: Primary Immune Thrombocytopenic Purpura (ITP) is an autoimmune hematological condition characterized by isolated thrombocytopenia and frequently presents with oral manifestations. However, reports of primary ITP in patients with Turner Syndrome (TS) are exceptionally rare, with few cases documented in the literature. Herein, we describe an unusual case of primary ITP with exuberant oral manifestations in a patient with TS.
METHODS: A 29-year-old woman was referred to an oral diagnostic service with complaints of \"blood blisters and gum bleeding\" lasting 8 h. On extraoral physical examination, multiple petechiae were observed in the upper and lower limbs, in addition to hemorrhagic extravasation in the right ocular sclera (hyposphagma). On intraoral examination, multiple vesicles and blisters filled with blood were identified on the lower lip, back of the tongue, and buccal mucosa, along with spontaneous gingival bleeding and hemorrhagic petechiae on the palate. Laboratory tests revealed thrombocytopenia (5000/mm3), whereas the blood count showed normality in the red and white series. After excluding other etiological factors or associated diseases, the patient was diagnosed with severe ITP and began treatment with systemic corticosteroids in the intensive care unit, resulting in a successful increase in platelets. After a 2-year follow-up, the patient remains free of ITP recurrences.
CONCLUSIONS: Oral manifestations may be one of the first signs of ITP. Therefore, it is essential that dentists are familiar with the condition and, when faced with unusual oral bleeding, consider the possibility of a hematological disorder such as ITP, ensuring a correct and early diagnosis. Moreover, the presence of ITP can further exacerbate complications associated with TS. Therefore, rigorous follow-up of these patients is crucial, considering the high incidence of cardiovascular and autoimmune diseases and the reduced life expectancy of these patients.

UNASSIGNED: Turner syndrome (TS) is the most common sex chromosome abnormality in women, caused by a complete or partial absence of the second sex chromosome. The karyotype 46, X,i(Xq) is the underlying cause in about 10% of the cases of TS. Hepatic abnormalities are frequent in TS. Granulomas are relatively common in liver samples but are very rarely reported in TS.
UNASSIGNED: A 15-year-old female with TS attended a consultation for evaluation of elevated liver enzymes. Her chromosomal analysis showed mosaicism 46, X (iso xq)100%. There were no stigmata of chronic liver disease. A liver biopsy showed granulomatous hepatitis. Other causes of hepatic granulomas have been excluded. Ursodeoxycholic acid (UDCA) therapy leads to the normalization of transaminases.
UNASSIGNED: Although Hepatic involvement is common and mostly asymptomatic in TS, the mechanism of liver injury is not well understood. The hepatic histological changes in these cases are variable and range from minimal abnormalities to nonalcoholic steatohepatitis (NASH), liver architectural changes, and biliary lesions. Hepatic granulomas are associated with a wide range of systemic disorders but are very rarely reported in tuner syndrome. Normalization of liver enzymes after treatment with UDCA was previously reported, but the importance of this approach is to be determined.
UNASSIGNED: Granulomatous hepatitis may be associated with TS and may be added to the histological patterns encountered in this disorder.

In individuals with Turner syndrome, the risk of death from aortic dissection or rupture during pregnancy may be as high as 1%, and it is unclear whether this risk persists during the postpartum period owing to pregnancy-related aortic changes. Turner syndrome is a relative contraindication for pregnancy; however, it is an absolute contraindication for pregnancy in a patient with an aortic size index of >2.5 cm/m2 or an aortic size index of ≥2.0 cm/m2 with a documented cardiac anomaly or other risk factors. This document replaces the 2012 document of the same name.

OBJECTIVE: 45,X/46,XY mosaicism is a rare condition with clinical and genetic heterogeneity and have a greatly increased risk of developing germ cell tumors. We describe a rare 45,X/46,XY Chinese girl with malignant tumors, especially focusing on the molecular genetics of gonadal tumor.
METHODS: We report a phenotypically Turner-like Chinese adolescent girl who presented primary amenorrhea and a pelvic mass as the chief complaint, which finally demonstrated dysgerminoma replacing the left gonad and gonadoblastoma arising from right gonad respectively. Her chromosome karyotype was 45,X(4)/46,XY(46); Y-chromosome microdeletions in AZFb regions were found on gonadal DNA rather than peripheral blood lymphocyte (PBL) DNA, while no variants were found in the promoter and coding region of SRY gene in both PBL and gonadal tissues. She underwent bilateral gonadectomy; no recurrence or serious complications were identified after 3 years of follow-up.
CONCLUSIONS: This case emphasizes the probable correlation between Y chromosome microdeletions in gonadal tissue and the severity of the phenotype in patients with 45,X/46,XY mosaicism and highlights the importance of clinical genetic testing at the chromosomal and molecular level.

BACKGROUND: The clinical features of Turner syndrome (TS) involve multiple organ system dysplasia, among which growth retardation and gonadal dysplasia are the most important clinical phenotypes.
METHODS: G banding karyotype analysis, chromosome microarray (CMA), and fluorescence in situ hybridization (FISH) were used for prenatal diagnosis of fetal chromosomes.
RESULTS: The result of fetal chromosome karyotype analysis was 46,XX. CMA showed arr[GRCh38]Xp22.33 p22.13(251888_18176046)x1,Xq27.1q28(140998347_156003433)x3. FISH indicated that the short arm end fragment of X chromosome was monomer and the long arm end fragment was trisomy.
CONCLUSIONS: The fetal chromosome karyotype was normal, but CMA indicated that there was deletion and duplication of X chromosome. FISH verified the CMA results, locating the deletion and duplication fragments. CMA and FISH make up for the shortcomings of chromosome karyotype analysis technique. It is suggested that multiple detection methods should be applied in genetic prenatal diagnosis.

BACKGROUND: Diabetes mellitus (DM) risk factors in Turner Syndrome (TS) may include autoimmunity, obesity, beta-cell dysfunction, genetic predisposition and insulin resistance (IR).
OBJECTIVE: Evaluate glucose tolerance and DM risk factors in adults with TS.
METHODS: A single centre study with two phases. To determine the prevalence of DM and to assess diabetes risk markers comparing women with TS with and without impaired glucose tolerance (IGT).
METHODS: Tertiary referral center, University College Hospitals.
METHODS: 106 Women with TS (age range 18-70 years) undergoing annual health surveillance.
METHODS: Participants underwent oral glucose tolerance tests (OGTT), with additional samples for autoimmunity and genetic analysis.
METHODS: Glucose tolerance, insulin, autoimmune and single nucleotide polymorphism (SNP) profile.
RESULTS: OGTT screening showed that those without a previous DM diagnosis, 72.7% had normal glucose tolerance, 19.5% had IGT, and 7.6% were newly diagnosed with DM. OGTT identified more cases of DM than HbAc1 sampling alone. Women with IGT or DM were older, with higher body mass index and IR. No association was found between autoimmune markers GAD, IA-2 and ZnT8, risk karyotypes or selected SNPs and DM. In DM cases, GAD positivity was associated with requirement for insulin therapy. The median age of onset of the diagnosis of DM was 36 years (range 11-56).
CONCLUSIONS: In the spectrum of DM subtypes, TS-associated DM lies between type 1 and type 2 DM with features of both. Key factors include weight and IR. Assessing C-peptide or GAD antibodies may aid future insulin requirement.

BACKGROUND: Turner syndrome (TS), one of the most common chromosomal abnormalities in females, often results in adult cardiovascular and metabolic complications. Information on pediatric age is scarce. This study aimed to compare the presence of cardiometabolic risk factors in children with TS and healthy controls.
METHODS: This is a cross-sectional study comparing patients with TS to age-matched healthy controls, regarding cardiometabolic risk factors including lipid profile, fasting glucose, insulin resistance, body composition, body mass index, blood pressure, and carotid intima-media thickness (cIMT).
RESULTS: We included nine TS patients and nine controls with a median age of 13 years (9-14 years). Three TS patients and three controls were prepubertal. All TS patients received growth hormone treatment (GHT), median treatment of six years (3-10 years); four patients underwent treatment with estradiol. No statistically significant differences were detected between TS patients and controls regarding body mass index (BMI), cholesterol levels, and insulin resistance. cIMT indexed to body surface area showed no significant differences between TS patients and controls (0.37 vs 0.35 mm/m2, respectively, p=0.605). TS patients had lower body fat levels (7.2% vs 34.9%, p=0.004). On the other hand, TS patients had higher levels of systolic (z-score 1.04 vs -0.08, p=0.001) and diastolic (z-score 1.08 vs 0.33, p=0.031) blood pressure (BP) and aspartate (AST) and alanine (ALT) aminotransferase levels (26 vs 20 U/L, p=0.008 and 19 vs 14 U/L, p=0.004, respectively).
CONCLUSIONS: Patients with TS, all submitted to GHT, had lower body fat levels compared with controls, despite similar BMI. Although we found no differences in cIMT between the two groups, young girls with TS had higher BP and transaminase levels. Early anthropometric, cardiovascular, and analytical monitoring of patients with TS is essential to detect abnormalities and prevent further complications.

Turner syndrome (TS) is the most common sex chromosome disorder affecting females and is usually diagnosed within the first 3 decades of life. It can present with primary amenorrhea or infertility and often has a typical phenotype, with associated medical conditions that require lifelong surveillance. We report the case of a 76-year-old female with a history of osteoporosis and vertebral fractures who presented to our specialist osteoporosis clinic following a neck of femur fracture. She revealed a history of short stature and primary amenorrhea as a young woman, with limited investigation and treatment. Her other medical history included coeliac disease, hypertension, and hearing and vision abnormalities. Given her phenotype, the patient was referred for a karyotype at age 76, which was consistent with mosaic TS (45, X in 78% of cells and 46, X, r(Y) in the remaining cells). We review reports of other cases of marked delay in TS diagnosis and discuss the consequences of a late diagnosis.

暂无摘要。

OBJECTIVE: We aimed to identify critical factors for uterine development by comparing uterine volume (UV) among patients with Turner syndrome (TS) who underwent pubertal induction (PI), patients with TS who had natural menarche (NM), and patients in a non-TS control group.
METHODS: This retrospective case-control study included patients with TS who had undergone PI with oral estrogen in a PI group(n=31) and a NM group(n=7). The control group included patients without TS with spontaneous puberty who underwent pelvic ultrasound at 16 years of age. For TS patients, both the UV from the first ultrasound performed at age 16 or older (1st-UV) and the UV from the most recent final ultrasound (final-UV) were obtained.
RESULTS: The 1st-UV was larger for patients in the NM group than those in the PI group (p<0.001), but did not differ significantly between the NM and control groups (p=0.375). The final-UV of the PI group was larger than their 1st-UV (p<0.001), but still smaller than the NM group (p=0.021). HRT duration and 1st-UV of PI group were positively correlated (p=0.048). There were no variables that were significantly correlated with final-UV of PI group.
CONCLUSIONS: Patients with TS who experienced NM showed normal uterine development, but TS patients who underwent PI showed significantly smaller, undeveloped UV. While HRT duration and UV are positively correlated at the beginning of HRT, it is unclear what determines the final UV; however, late PI initiation and use of oral estrogen probably contributed to the lack of UV development.