جستجوی مقالات مرتبط با کلیدواژه « karyotype » در نشریات گروه « پزشکی »

Disorders of sex development (DSD) result from intrauterine defects in sex discrimination. The clinical phenotype differs based on the disease type. Cases with ambiguous external genitalia are diagnosed at birth. However, diagnosis of cases with normal-appearing external genitalia may be delayed until puberty. Here, we report a patient with a pelvic mass and a small uterus that was diagnosed by abdominal ultrasound, in addition to the history of primary amenorrhea and physical examination suggested Swyer syndrome, confirmed by genetic karyotyping. Pathological examination of the surgically removed mass revealed dysgerminoma. Until the age of 19, the patient did not have any idea about 46, XY karyotype, and assumed to be a female. The development of dysgerminoma (as a result of the simultaneous presence of gonadal dysgenesis and Y-chromosome) was another challenge that the patient had to deal with. The diagnosis of this patient at an earlier age could have prevented the development of gonadoblastoma, by removal of the streak gonads. By the presentation of this case, we intend to increase the physician’s awareness about DSDs; earlier diagnosis may help the patient deal with her disease better and reduce the risk of further complications.

From a diagnostic standpoint, certain approaches to genetic screening in clinical practice remain ambiguous in the era of assisted reproduction. Even the most current guidelines do not provide definite guidance on testing protocols, leaving clinicians to carefully determine which tests best serve patients struggling with infertility. The lack of uniformity in the current practice of male fertility evaluation can prove to be quite costly, thus necessitating healthcare practitioners to carefully appraise the necessity and weigh the advantages against potential economic and psychological detriments. The objective of this review is to map the existing literature on the general topic of the clinical indications of routine karyotyping and/or AZF screening in infertile men, identify key concepts, determine where the gaps are, and lastly, provide an overview of the conclusions drawn from a body of knowledge that varies widely in terms of methodologies or disciplines.

A thorough search was conducted for the published findings up until July 2023, utilizing PubMed (MEDLINE). This comprehensive search involved the use of specific search keywords, either individually or in combination. The search terms employed were as follows: “Karyotype”, "Klinefelter" or "KS" or "47,XXY", "AZF" or "Azoospermi*" and/or "microdeletion*" in the title or abstract. Once the titles and abstracts of selected articles were obtained, the complete texts of linked papers were meticulously scrutinized.

A total of 191 records were identified from PubMed. During screening, 161 records (84.3%) were eliminated. Finally, 30 papers were included in this scoping review, which was conducted in 18 countries. The number of sequence tag sites (STSs) used in the studies varied from 5 to 59. The rate of AZF deletions among patients with NOA ranged from 1.3% to 53%. The mean frequency was estimated to be 5.6%. The rate of YCM among patients with XXY karyotype was nil in 19 out of 30 studies (63%), whilst, in the remaining studies, the rate varied from 0.8% to 67%.

This review provides insights into managing male infertility. The presence of spermatozoa in ejaculation and successful surgical retrieval cannot be excluded for individuals with AZFb/AZFbc microdeletions. Screening for Y chromosome microdeletions is not needed for mosaic or classic KS. Only 1% of individuals with sperm concentration exceeding 1×106 sperm/mL and less than 5×106 sperm/mL exhibit AZF microdeletions; therefore, testing referral for such populations may need reassessment. Individuals with mosaic monosomy X karyotype and certain chromosomal anomalies should be referred for AZF deletion screening. These findings have implications for male infertility management and future research.

Down syndrome and β-thalassemia are commonly prevalent genetic diseases worldwide. Predominantly, an extra copy of chromosome 21 or trisomy 21 predominantly causes Down syndrome (the most common genetic etiology of moderate intellectual disability). Down syndrome is associated with congenital anomalies and characteristic features. β-thalassemia major or transfusion- dependent Thalassemia refers to a severe expression of the disorder that requires early transfusion therapy.

Case Report: 

Here, we reported a male Down syndrome patient with a 47, xy, +21 karyotype who was diagnosed with β-thalassemia major at 6 months and treated with repeated transfusions every 20 days due to anemia.

The association between Down syndrome and major β-thalassemia is rare. The severity of the presentation of the child may be explained by the coincidence of these diseases.

The mammalian Y chromosome is a vital sex-determining factor in mammals by encoding gonadal genes. However, there are some discordant conditions with the XY female chromosome, which can lead to their inclusion in the disorders of sex development group.

Case Report: 

The person under study is a 22-year-old woman for whom written consent was obtained, and all ethical procedures were followed. Herein, we report an extraordinarily fertile adolescent phenotypic mother with congenital XY abnormality who reared as female, spontaneous puberty with regular menstruation and two gestations. This condition was initially diagnosed using the karyotype technique and finally confirmed with the specialized Fluorescence in-situ hybridization technique. Finally, the quantitative fluorescent polymerase chain reaction technique was used for more certainty. Usually, the male genotype cannot be fertile; since this case is unique, various reasons are involved in its occurrence. One of these cases can be a bone marrow or blood transplant, but according to the study, the possible development of this disorder can be caused by the fetal period.

As the prior clinical history of the case report revealed that her twin brother died during her mother’s expectancies, it can be assumed that the blood supply between the two fetuses has been shared unevenly or that feto-fetal transfusion has occurred. This incident has caused her to become a chimera with XY karyotype.

Acute lymphoid leukemia (ALL) is the largest subset of hematologic malignancies, accounting for approximately 70%–80% of childhood leukemia, and is most common at age 4 years. The aim of this study was to define the frequency of chromosomal abnormalities in pediatric ALL.

In this 11‑year retrospective study, we investigated 99 patients which referred to our department due to ALL from 2010 to 2020. The age group of the patients ranged from 6 months to 14 years with a mean of 6.71 ± 4.09 years. Clinical and diagnostic findings were extracted from patients’ medical records.

We showed cytogenetic abnormalities of 99 pediatric ALL patients, including 78 pre‑B‑ALL, 9 common B‑ALL, and 12 T‑ALL cases. The 5‑year overall survival rate (OSR) and event‑free survival (EFS) of all cytogenetic abnormalities(n = 99) were 48% and 43%, respectively. There was a significant relationship between the two cytogenetic abnormalities, hypodiploidy and t(9;22), with death (P < 0.05). On comparing the subjects with normal cytogenetics to the other cytogenetic abnormalities, EFS was significantly low for hypodiploidy (P = 0.0163, hazard ratio = 0.5308) and t(9;22) (P = 0.0131, hazard ratio = 0.4908), while other cytogenetic abnormalities did not have a statistically significant difference in EFS.

Our results emphasized the importance of the cytogenetic findings in evaluating the survival outcomes, which allows identifying a variety of OSR and EFS, because some of the cytogenetic abnormalities may interfere with the death and prognosis.

Autism spectrum disorder is a heterogeneous neuropsychiatric group of pervasive development disorder, which is mostly diagnosed through the intricate behavioral phenotype. According to strong genetic involvement, detecting the chromosome regions and the key genes linked to autism can help to elucidate its etiology. The present study aims to investigate the value of cytogenetic analysis in syndromic autism as well as to find an association between autism and chromosome abnormalities.

Thirty-six autism patients from 30 families, diagnosed clinically with DSM-5 criteria, were recruited. The syndromic patients who had additional clinical features involving development delay, attention deficit, hyperactivity disorder, seizure, language, and intellectual impairment were selected due to elevating the detection rate. Cytogenetics analysis was performed using GTG banding on the patients' cultured fibroblasts. Moreover, array-comparative genomic hybridization was also performed for a patient with a de novo and novel variant. 

Karyotype analysis in 36 syndromic autism patients detected chromosomal abnormalities in two (5.6%) families, including 46,XY,dup(15)(q11.1q11.2) and 46,XX,ins(7)(q11.1q21.3)dn. In the latter, array-comparative genomic hybridization detected three abnormalities on chromosome 7, including deletion and insertion on both arms; 46,XX,del(7)(q21.11q21.3),dup(7)(p11.2p14.1p12.3)dn.

We reported a novel and de novo cytogenetic abnormality on chromosome 7 in an Iranian patient diagnosed with syndromic autism. However, the detection rate in syndromic autism was low which implies that it cannot be utilized as the only diagnostic procedure.

Background:

 Turner syndrome patients are more likely to develop autoimmune diseases in contrast to the general population. Many research have had controversial results suggest a possible relation between the cytogenetic findings and development of autoimmune thyroid disease in Turner syndrome. Therefore, we aimed to evaluate the prevalence of thyroid disorders and the possible relationship between thyroid disorders with the cytogenetic findings in these patients.

The present retrospective study took place in pediatric endocrinology clinic of Imam Reza Hospital (Mashhad, Iran), and every pediatric patient who were younger than 18 years old with the clinical phenotype of Turner syndrome and had complete thyroid function tests enrolled. The medical records of these patients were evaluated and patients were recalled if any further information was needed. The study data including thyroid function tests as well as patients' age, height, weight, and karyotype findings were entered in a check list and the relationship between thyroid functions tests and karyotype findings were evaluated.

Among the 79 patients enrolled in the present study, the mean ± standard deviation of age was 10.82 ± 2.6 years. The most of the study population had negative anti-TPO results (62 patients, 78%). Among all patients, eight patients (10.1%) had autoimmune hypothyroidism There was not any significant relationship between thyroid function tests with different cytogenetic findings (P>0.05).

Conclusion :

Hypothyroidism (26.6%) was the most common thyroid disorder among Turner syndrome patients. Although there was not any significant relationship between thyroid function tets, Z-scores for hight and weight with cytogenetic findings; however, our findings highlights the need for more specific screening programs for evaluating the thyroid functions in turner patient.

Lipoid congenital adrenal hyperplasia (LCAH) is the most severe form of adrenal hyperplasia and mutations in the StAR gene are the most common cause of the disease. Adrenal insufficiency and cholestasis are reported in few patients. The aim of this study was to report the results of treatment of two sisters with lipoid CAH and cholestatic jaundice.

CASE REPORTS: 

Here, we present two sisters at the age of 30 and 60 days with conjugated hyperbilirubinemia and elevated liver enzymes and adrenal insufficiency. They had a 46,XY karyotype with external female genitalia without uterus and ovaries. LCAH was detected through electrolyte abnormalities, increased ACTH, decreased levels of cortisol and sex hormones and was confirmed by determination of exome sequencing and Sanger sequencing. In these patients, a homozygous mutation (c.653C>T) in exon 6 of STAR gene was identified. The patients were treated with 10 mg of hydrocortisone IV every 8 hours for 3 days; oral hydrocortisone was then administered at a dose of 2.5 mg every 8 hours and 0.2 mg fludrocortisone daily. One month after the therapy, levels of bilirubin and liver enzymes of these patients became normal. The first patient died 7 months after her mother stopped giving the drugs to the child. The other patient is now 9 years old. She is in good clinical condition as her treatment goes on.

Considering the reported cases, adrenal lipoid hyperplasia should be considered as a rare cause of cholestasis with adrenal insufficiency in patients.

Abnormal pubertal development and fertility are among the frequent complications in Turner’s syndrome. Although elevated level of gonadotropins in Turner’s syndrome patients is well documented, the possible correlation with the karyotype findings and anthropometric features of patients is not clearly addressed. The present report aimed to evaluate the relation between the follicle-stimulating hormone (FSH) serum level and cytogenetic findings in Iranian Turner’s syndrome patients.

Abnormal pubertal development and fertility are among the frequent complications in Turner’s syndrome. Although elevated level of gonadotropins in Turner’s syndrome patients is well documented, the possible correlation with the karyotype findings and anthropometric features of patients is not clearly addressed. The present report aimed to evaluate the relation between the follicle-stimulating hormone (FSH) serum level and cytogenetic findings in Iranian Turner’s syndrome patients.

The mean age of the Turner’s syndrome patients was 9.78 years and most of the patients were mosaic for Turner syndrome (54.3%). Although the FSH level increased, there was not any significant different between the FSH level in the initial evaluation and the second evaluation within the entire study population (P=0.605). Among those who were mosaic for Turner’s syndrome and those with 45,XO karyotype, the FSH level increased during the follow up (P=0.476, and P=0.357, respectively).

The present study demonstrated that although Turner’s syndrome patients face abnormal FSH levels, there is not any significant relation between the cytogenetic findings as well as anthropometric characteristics including height, weight and BMI with the serum FSH levels.

Turner Syndrome (TS) is caused by the complete or partial absence/abnormality of the second X chromosome in some or all cells.The purpose of this study was to assess the correlation between clinical presentation and karyotype variations of X chromosome in TS.

In a retrospective case-series using medical records (2001-17) for our pediatric-endocrinology TS patients, additional data were collected using a questionnaire and detailed physical examination, including demographics, initial presentation, clinical characteristics at diagnosis, height, puberty stage, cardiovascular and renal malformations, uterus and ovary status, and hormonal profile. Three patient-groups of monosomy X (45,X) cases, 45,X/46,XX or 45,X/46,XY mosaicism cases, and cases with other aberrations of X chromosome were compared in this study.

In 57 TS patients (Age range 6 months to 25 years (Mean 11.85±5.1 yrs.)), 3.5% were diagnosed in infancy because of lymphedema and congenital heart disease. Short stature was the initial presentation in 78.9%. On presentation, 94.7% were short. Other referrals included cases with primary amenorrhea (12%), delayed puberty (5.3%), leg edema (1.8%) and congenital heart disease (1.8%). Mean height standard deviation score was 3.7±1.8 SD below mean for age and sex. Overall, 50.9% of cases had all clinical features consistent with TS and 21.1% had no symptoms of TS other than short stature. Of 39 patients in pubertal age, 31.6% had degrees of breast maturity. Most of them had X structural abnormalities (40.3%). However, 33.3% had classic TS. Still, 5.3% had Y-chromosome material. Among three karyotype groups, clinical symptoms and phenotypes were not significantly different.

The study found no correlation between the clinical presentation and karyotype variations of TS.