Objective To investigate the role of thyroid autoimmunity in chronic urticaria. Methods The thyroid function, anti-thyroid auto-antibodies, and relevant cytokines were detected by RIA and ELISA methods in 56 patients with chronic urticaria and 40 healthy controls. Results Serum thyroid-stimulating hormone (TSH), anti-thyroglobulin antibody (TG-Ab) and anti-thyromicrosome antibody (TMA ) levels were increased in 8, 5 and 7 cases, respectively, in 56 patients, which were significantly higher than those in healthy controls (P

OBJECTIVETo explore the origin and mechanism of small supernumerary marker chromosomes (sSMC) in order to facilitate genetic counseling.

METHODSChromosome karyotypes of two fetuses and their immediate family members were analyzed by conventional G banding. High-throughput whole genome sequencing was used to determine the origin of sSMCs.

RESULTSFetus 1 was shown to have a karyotype of 47,XY,+mar but with normal FISH and B ultrasound findings. Its father also had a 47,XY,+mar karyotype with normal FISH results and clinical phenotype. High-throughput genome sequencing revealed that fetus 1 and its father were both 46,XY,dup(21)(q11.2;q21.1) with a 6.2 Mb duplication of the long arm of chromosome 21. The fetus was born with normal phenotype and developed well. Its grandmother also had a karyotype of 46,XX,t(15;21)(q13;p13) with normal FISH result and clinical phenotype. The karyotypes of its mother and grandfather were both normal. Analysis of fetus 2 showed a 47,XY,+mar karyotype with normal FISH results. High-throughput genome sequencing suggested a molecular karyotype of 46,XX. The fetus was born with normal phenotype and developed well. The karyotypes of its parents were both normal.

CONCLUSIONConsidering their variable origins, identification of sSMC should combine conventional G banding analyses with high-throughput whole genome sequencing for precise delineation of the chromosomes.

Adult ; Amniotic Fluid ; chemistry ; Chromosome Banding ; Chromosome Disorders ; diagnosis ; embryology ; genetics ; Cytogenetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Male ; Pregnancy ; Prenatal Diagnosis ; Young Adult

OBJECTIVETo track and analyze two false positive cases from non-invasive prenatal testing for potential fetal aneuploidy.

METHODSThe two cases, respectively reported to have XO (+++) and T18 (1/20) XO(+), were analyzed with conventional karyotyping, fluorescence in situ hybridization (FISH) and massively parallel genomic sequencing (MPS).

RESULTSThe first fetus, who was suspected for XO(+++), was verified to have super female syndrome (47,XXX/46,XX) due to confined placental mosaicism by karyotyping of amniotic fluid cells, FISH analysis of placenta and massively parallel sequencing (MPS) of fetal tissue. The second fetus, suspected to have trisomy 18 (1/20) XO(+), was verified to have Turner syndrome by karyotyping, FISH and MPS analyses of umbilical cord blood cells. And the karyotype was 45,X[48]/46, X, der(X) del(X) (p11.21) del(X) (q13.3)[62].

CONCLUSIONNon-invasive prenatal testing carries a risk for false positive diagnosis of fetal sex chromosome and trisomy 18. Combined cytogenetic and molecular techniques are required to ensure an accurate diagnosis.

Adult ; Aneuploidy ; Chromosome Aberrations ; Diagnostic Errors ; False Positive Reactions ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Pregnancy ; Prenatal Diagnosis ; Young Adult

OBJECTIVE: To delineate cytogenetic and molecular abnormalities of a fetus carrying a de novo 46,X,der(X),t(X;Y)(p22.3;p11.2). METHODS: G-banded karyotyping and next-generation sequencing (NGS) were used to analyze the fetus, his father and sister. Single nucleotide polymorphism-based arrays (SNP-array), multiple PCR and fluorescence in situ hybridization (FISH) were utilized to verify the result. RESULTS: G-banded karyotyping at 320 bands showed that the fetus had a normal karyotype, while NGS has identified a 3.58 Mb microdeletion at Xp22.33 and a Y chromosomal segment of about 10 Mb at Yp11.32p11.2. With the sequencing results, high-resolution karyotyping at 550-750 bands level has determined the fetus to be 46,X,der(X)t(X;Y)(p22.3;p11.2). The result was confirmed by PCR amplification of the SRY gene, FISH and SNP-array assays. The karyotypes of his father and sister were both normal. His sister also showed no amplification of the SRY gene, and her NGS results were normal too, suggesting that the karyotype of the fetus was de novo. CONCLUSION Combined karyotyping, NGS, SNP-array, PCR and FISH assay can facilitate diagnosis of XX disorder of sex development.
Chromosomes, Human, X ; genetics ; Disorders of Sex Development ; genetics ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Translocation, Genetic

Objective:To summarize and share the experience of one-stage feminization surgery in children with congenital adrenal hyperplasia (CAH).Methods:The clinical data of CAH female children in the Department of Pediatric Urology, the Second Affiliated Hospital and Yuying Children’s Hospital of Wenzhou Medical University from January 2018 to December 2020 were retrospectively analyzed. According to the Prader classification standard, the external genital virilism of children was graded. The cases of Prader grades Ⅱ to Ⅳ were underwent clitoroplasty and labiaplasty, while the cases of Prader Ⅱ and Ⅳ grades were required further vaginoplasty.Partial urogenital sinus mobilization(PUM) or total urogenital sinus mobilization(TUM )was performed according to the length of the urethrovaginal junction to the vulvar opening during the procedure. The postoperative follow-up was included the recovery of the external genitalia wound, the child’s ability to control urination, and the family members’ satisfaction with the child’s external genitalia appearance. Six months after the operation, the satisfaction with the appearance of the external genitalia was evaluated in the outpatient clinic, including four aspects: clitoris, labia majora, labia minora, and vaginal appearance.Results:A total of 18 female children were enrolled, ranging in age from 2 to 9 years old, with an average age of 4.5 years. There were 5 cases of Prader grade Ⅱ, 9 cases of grade Ⅲ, and 4 cases of grade Ⅳ. Ten cases (9 cases of Prader grade Ⅲ and 1 case of grade Ⅳ) underwent PUM, and 3 cases of Prader grade Ⅳ underwent TUM. All patients were followed up for 6-12 months after the operation, and all the wounds of the external genitalia of the children were healed in one stage. The satisfaction of family members to the appearance of external genitalia of children: 15 cases were satisfied, 3 cases were not satisfied; 3 patients were found to have overactive bladder two weeks after the operation, and no special treatment was given, the symptoms disappeared three months after the procedure, and the other children had no abnormal urination control ability. Six months after the process, the external genitalia was evaluated in the physician’s clinic: 17 cases were satisfied, and one was dissatisfied.Conclusions:The surgical method can be selected for better results according to the degree of external genitalia virilism and the common channel length in CAH female children.

Objective:To summarize and share the experience of one-stage feminization surgery in children with congenital adrenal hyperplasia (CAH).Methods:The clinical data of CAH female children in the Department of Pediatric Urology, the Second Affiliated Hospital and Yuying Children’s Hospital of Wenzhou Medical University from January 2018 to December 2020 were retrospectively analyzed. According to the Prader classification standard, the external genital virilism of children was graded. The cases of Prader grades Ⅱ to Ⅳ were underwent clitoroplasty and labiaplasty, while the cases of Prader Ⅱ and Ⅳ grades were required further vaginoplasty.Partial urogenital sinus mobilization(PUM) or total urogenital sinus mobilization(TUM )was performed according to the length of the urethrovaginal junction to the vulvar opening during the procedure. The postoperative follow-up was included the recovery of the external genitalia wound, the child’s ability to control urination, and the family members’ satisfaction with the child’s external genitalia appearance. Six months after the operation, the satisfaction with the appearance of the external genitalia was evaluated in the outpatient clinic, including four aspects: clitoris, labia majora, labia minora, and vaginal appearance.Results:A total of 18 female children were enrolled, ranging in age from 2 to 9 years old, with an average age of 4.5 years. There were 5 cases of Prader grade Ⅱ, 9 cases of grade Ⅲ, and 4 cases of grade Ⅳ. Ten cases (9 cases of Prader grade Ⅲ and 1 case of grade Ⅳ) underwent PUM, and 3 cases of Prader grade Ⅳ underwent TUM. All patients were followed up for 6-12 months after the operation, and all the wounds of the external genitalia of the children were healed in one stage. The satisfaction of family members to the appearance of external genitalia of children: 15 cases were satisfied, 3 cases were not satisfied; 3 patients were found to have overactive bladder two weeks after the operation, and no special treatment was given, the symptoms disappeared three months after the procedure, and the other children had no abnormal urination control ability. Six months after the process, the external genitalia was evaluated in the physician’s clinic: 17 cases were satisfied, and one was dissatisfied.Conclusions:The surgical method can be selected for better results according to the degree of external genitalia virilism and the common channel length in CAH female children.

Objective:To summarize and share the experience of one-stage feminization surgery in children with congenital adrenal hyperplasia (CAH).Methods:The clinical data of CAH female children in the Department of Pediatric Urology, the Second Affiliated Hospital and Yuying Children’s Hospital of Wenzhou Medical University from January 2018 to December 2020 were retrospectively analyzed. According to the Prader classification standard, the external genital virilism of children was graded. The cases of Prader grades Ⅱ to Ⅳ were underwent clitoroplasty and labiaplasty, while the cases of Prader Ⅱ and Ⅳ grades were required further vaginoplasty.Partial urogenital sinus mobilization(PUM) or total urogenital sinus mobilization(TUM )was performed according to the length of the urethrovaginal junction to the vulvar opening during the procedure. The postoperative follow-up was included the recovery of the external genitalia wound, the child’s ability to control urination, and the family members’ satisfaction with the child’s external genitalia appearance. Six months after the operation, the satisfaction with the appearance of the external genitalia was evaluated in the outpatient clinic, including four aspects: clitoris, labia majora, labia minora, and vaginal appearance.Results:A total of 18 female children were enrolled, ranging in age from 2 to 9 years old, with an average age of 4.5 years. There were 5 cases of Prader grade Ⅱ, 9 cases of grade Ⅲ, and 4 cases of grade Ⅳ. Ten cases (9 cases of Prader grade Ⅲ and 1 case of grade Ⅳ) underwent PUM, and 3 cases of Prader grade Ⅳ underwent TUM. All patients were followed up for 6-12 months after the operation, and all the wounds of the external genitalia of the children were healed in one stage. The satisfaction of family members to the appearance of external genitalia of children: 15 cases were satisfied, 3 cases were not satisfied; 3 patients were found to have overactive bladder two weeks after the operation, and no special treatment was given, the symptoms disappeared three months after the procedure, and the other children had no abnormal urination control ability. Six months after the process, the external genitalia was evaluated in the physician’s clinic: 17 cases were satisfied, and one was dissatisfied.Conclusions:The surgical method can be selected for better results according to the degree of external genitalia virilism and the common channel length in CAH female children.

Objective:To summarize and share the experience of one-stage feminization surgery in children with congenital adrenal hyperplasia (CAH).Methods:The clinical data of CAH female children in the Department of Pediatric Urology, the Second Affiliated Hospital and Yuying Children’s Hospital of Wenzhou Medical University from January 2018 to December 2020 were retrospectively analyzed. According to the Prader classification standard, the external genital virilism of children was graded. The cases of Prader grades Ⅱ to Ⅳ were underwent clitoroplasty and labiaplasty, while the cases of Prader Ⅱ and Ⅳ grades were required further vaginoplasty.Partial urogenital sinus mobilization(PUM) or total urogenital sinus mobilization(TUM )was performed according to the length of the urethrovaginal junction to the vulvar opening during the procedure. The postoperative follow-up was included the recovery of the external genitalia wound, the child’s ability to control urination, and the family members’ satisfaction with the child’s external genitalia appearance. Six months after the operation, the satisfaction with the appearance of the external genitalia was evaluated in the outpatient clinic, including four aspects: clitoris, labia majora, labia minora, and vaginal appearance.Results:A total of 18 female children were enrolled, ranging in age from 2 to 9 years old, with an average age of 4.5 years. There were 5 cases of Prader grade Ⅱ, 9 cases of grade Ⅲ, and 4 cases of grade Ⅳ. Ten cases (9 cases of Prader grade Ⅲ and 1 case of grade Ⅳ) underwent PUM, and 3 cases of Prader grade Ⅳ underwent TUM. All patients were followed up for 6-12 months after the operation, and all the wounds of the external genitalia of the children were healed in one stage. The satisfaction of family members to the appearance of external genitalia of children: 15 cases were satisfied, 3 cases were not satisfied; 3 patients were found to have overactive bladder two weeks after the operation, and no special treatment was given, the symptoms disappeared three months after the procedure, and the other children had no abnormal urination control ability. Six months after the process, the external genitalia was evaluated in the physician’s clinic: 17 cases were satisfied, and one was dissatisfied.Conclusions:The surgical method can be selected for better results according to the degree of external genitalia virilism and the common channel length in CAH female children.