Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Sarar Mohamed ◽  
Edna F. Roche ◽  
Hilary M.C.V. Hoey
Keyword(s):  
Turner Syndrome ◽  
Clinical Presentation ◽  
Chromosomal Abnormalities ◽  
Ring Chromosome ◽  
Delayed Puberty ◽  
Single Centre ◽  
Important Indicator ◽  
Single Centre Experience ◽  
Wide Range ◽  
Chromosome Material

AbstractAge at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS.This was a retrospective evaluation of the clinical and laboratory records of patients with TS.Sixty-five patients with TS were identified; 40 (62%) were diagnosed after age 5 years. The main presenting features were short stature, delayed puberty, dysmorphic features, and neonatal lymphoedema. Chromosomal analysis of this cohort showed that 31 patients demonstrated mosaicism, while a 45,X karyotype was observed in 19. The remaining patients had variable abnormalities including deletion, translocation, isochromosome, and ring chromosome. Y-chromosome material was found in four cases.Most patients with TS were diagnosed after age 5 years, had a varied clinical presentation, and had a wide range of chromosomal abnormalities.

Single centre experience of testosterone therapy for boys with delayed puberty

2017 ◽  
Author(s):  
Angela Lucas-Herald ◽  
Eliot Mason ◽  
Paula Beaumont ◽  
Avril Mason ◽  
M Guftar Shaikh ◽  
...  
Keyword(s):  
Delayed Puberty ◽  
Single Centre ◽  
Testosterone Therapy ◽  
Single Centre Experience

scholarly journals Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study

2018 ◽  
Vol 2018 (1) ◽  
Author(s):  
Louise Apperley ◽  
Urmi Das ◽  
Renuka Ramakrishnan ◽  
Poonam Dharmaraj ◽  
Jo Blair ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Single Centre

scholarly journals Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Catarina Silvestre ◽  
Juliette Dupont ◽  
Rosário Silveira Santos ◽  
Brígida Robalo ◽  
Carla Pereira ◽  
...  
Keyword(s):  
Short Stature ◽  
Chromosomal Abnormalities ◽  
Phenotypic Variability ◽  
Delayed Puberty ◽  
Paediatric Endocrinology ◽  
Wide Range ◽  
Normal Males ◽  
Sex Orientation ◽  
Careful Investigation

Mosaicism brings great variability into the clinical expression of numerical and structural chromosomal abnormalities. The phenotypic variability of 45,X/46,XY mosaicism extends from Turner syndrome to apparently physically normal males. We present a case of a 14-year-old adolescent with short stature and delayed puberty, who was admitted in a Paediatric Endocrinology outpatient clinic. After a careful investigation, he was found to have a 45,X/46,X,idic(Y)(p11.32) mosaicism. This case report emphasizes the wide range of etiologies that can be involved in short stature and that chromosomal study is an important tool when firstly approaching males with short stature, avoiding unnecessary tests. There is an important clinical need for gonadal follow-up in this situation and for support in the decision about sex of rearing and sex orientation, when justifiable.

SINGLE-CENTRE EXPERIENCE WITH MONDOR'S DISEASE: CLINICAL PRESENTATION, THERAPY AND OUTCOME

2006 ◽  
Vol 5 (2) ◽  
pp. 82
Author(s):  
G.M. Pinggera ◽  
K. Tosun ◽  
L. Pallwein ◽  
M. Mitterberger ◽  
J. Bektic ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Single Centre ◽  
Single Centre Experience ◽  
Mondor’S Disease ◽  
Mondor's Disease

scholarly journals Thoracic endometriosis syndrome in Nigeria: a single-centre experience

2020 ◽  
Author(s):  
Ndubueze Ezemba ◽  
Okechukwu C Okafor ◽  
Nwadinma U Emeruem ◽  
Charles O Adiri
Keyword(s):  
Surgical Treatment ◽  
Marital Status ◽  
Clinical Presentation ◽  
Large Percentage ◽  
Single Centre ◽  
Massive Ascites ◽  
Prominent Symptom ◽  
Single Centre Experience ◽  
The Right ◽  
Thoracic Endometriosis

Abstract OBJECTIVES Thoracic endometriosis syndrome (TES) is the presence of functional endometrial tissue in or around the lung. There seem to be differences in the clinical presentation of this condition among Nigerian patients. We aim to study the clinical presentation and management outcome of TES in our centre. METHODS This is an analysis of consecutive patients with TES treated over a 5-year period and followed up for 6 months to 5 years. Information collected included the gynaecological history, clinical presentation, causes of misdiagnosis, modalities of treatment and outcome. RESULTS Twenty-three patients with TES aged between 24 and 45 years (median 32 years) were treated. Severe dysmenorrhoea was a prominent symptom in 91.3% of cases (median dysmenorrhoea score 8) and was uninfluenced by the marital status (P = 0.522). The patients usually presented with massive or recurrent haemothorax associated with massive ascites [16/23 (69.5%) of cases (P = 0.0006)]. The right side alone was involved in 21 cases and 1 patient had catamenial haemoptysis as a part of her symptoms, even though there was bronchial bleed at bronchoscopy in 6 patients. In 40%, tuberculosis was the misdiagnosis. Diagnosis was established histologically in 18/23 (78.3%) of the cases. Treatment was multimodal and multidisciplinary with notable macroscopic lesions in 77.8% of the patients that had surgery. CONCLUSIONS TES is not an uncommon lesion. Presentation with massive haemothorax is usually associated with massive ascites. A large percentage of such have pleural and diaphragmatic lesions that require surgical treatment. The ascites may be refractory to treatment requiring repeated paracentesis.

scholarly journals P.006 Neural antibody testing for autoimmune encephalitis: A Canadian single-centre experience

2021 ◽  
Vol 48 (s3) ◽  
pp. S21-S21
Author(s):  
A Mirian ◽  
S McFadden ◽  
P Edmond ◽  
V Bhayana ◽  
L Yang ◽  
...  
Keyword(s):  
False Positive ◽  
Clinical Presentation ◽  
Clinical Phenotype ◽  
Autoimmune Encephalitis ◽  
Antibody Testing ◽  
Single Centre ◽  
Clinical Sensitivity ◽  
Single Centre Experience ◽  
One Year ◽  
Positive Results

Background: We reviewed our autoimmune encephalitis neural antibody testing using brain tissue indirect immunofluorescence (TIIF) and cell-based assays (CBAs) after one year. Methods: Samples were tested from March 2019–March 2020 by TIIF and CBA for anti-NMDAR, LGI1, CASPR2, AMPAR, GABA(B)R, DPPX, IgLON5 and GAD65. Weakly positive or positive CBA, with or without corresponding TIIF positivity, was reported positive. Clinical questionnaires were submitted for clinical-serological correlation. Patients with a compatible clinical phenotype and no more likely alternative diagnosis were classified as true-positives, while all others were flagged as possible false-positives. Results: Twenty of 373 patients (5.4%) had a positive neural antibody. All anti-LGI1 (N=4), GAD65 (N=4), and GABA(B)R (N=1) were classified as true-positives. In contrast, only 3/6 anti-CASPR2 and 3/5 anti-NMDAR were classified as true-positives. Among true-positives, 2/4 anti-LGI and 3/3 anti-CASPR2 were positive by CBA only. All possible false-positive results exhibited only weak serum staining by CBA, with negative serum TIIF and negative CSF CBA/TIIF (if available). Conclusions: Clinical sensitivity of CBA seems higher than TIIF for neural antibodies studied herein, but may come at some expense to clinical specificity. Among patients with weak serum staining by CBA, correlation with serum TIIF, CSF CBA/TIIF, and clinical presentation is recommended.

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