1.Male Pseudohermaphroditism Presented with Sudden Cardiac Arrest.
Jaemin SHIM ; Hye Jin HWANG ; Hui Nam PAK ; Moon Hyoung LEE ; Boyoung JOUNG
Yonsei Medical Journal 2012;53(3):658-661
Torsades de Pointes is a life-threatening arrhythmia associated with a number of causes, but is very rare among endocrinologic disorders. We report a case of male pseudohermaphroditism with hyperaldosteronism due to a 17alpha-hydroxylase deficiency presented with sudden cardiac arrest.
46, XY Disorders of Sex Development/*diagnosis/drug therapy
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Adult
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Death, Sudden, Cardiac/*etiology/*pathology
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Female
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Humans
2.Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers.
Young June KIM ; Hyuk Jin KWON ; Hyuk Soo BYUN ; Donguk YEOM ; Jea Hong CHOI ; Joong Hyun KIM ; Hosup SHIM
Journal of Veterinary Science 2017;18(4):547-549
Persistent Müllerian duct syndrome (PMDS) is a pseudohermaphroditism in males characterized by the presence of Müllerian duct derivatives. As PMDS dogs often lack clinical symptoms, a molecular diagnosis is essential to identify the syndrome in these animals. In this study, a new molecular method using DNA mismatch-specific Surveyor nuclease was developed. The Surveyor nuclease assay identified the AMHR2 mutation that produced PMDS in a Miniature Schnauzer as accurately as that obtained by using the conventional method based on restriction digestion. As an alternative to the current molecular diagnostic method, the new method may result in increased accuracy when detecting PMDS.
Animals
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Diagnosis
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Digestion
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Disorders of Sex Development
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DNA
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Dogs
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Humans
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Male
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Methods
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Pathology, Molecular
3.Persistent Müllerian duct syndrome: a report of 2 cases and review of the literature.
Xiao-Bing JU ; Wei ZHANG ; Hong-Fei WU ; Li-Xin QIAN ; Bai-Xin SHEN ; Zheng-Quan XU ; Yuan-Geng SUI
National Journal of Andrology 2008;14(1):51-54
OBJECTIVETo study the etiopathogenesis, clinical manifestations, diagnosis and management of persistent Müllerian duct syndrome (PMDS).
METHODSTwo cases of PMDS were reported, one accompanied by transverse testicular ectopia and the other associated with cryptorchidism. Corporeal hysterectomy and orchidopexy were given to both the patients and cryptorchidectory the latter.
RESULTSVascular supply and texture of the testis were normal in both the 2 patients after 1.5-2 years' follow-up.
CONCLUSIONPMDS is male pseudohermaphroditism, for which means should be taken to preserve the blood supply and fertility function of the testis in surgical management, and attention should be paid to possible development of testis tumor in follow-up.
Adult ; Disorders of Sex Development ; pathology ; Follow-Up Studies ; Humans ; Male ; Mullerian Ducts ; abnormalities ; Syndrome
4.The mechanism of tetragametic chimerism in a true hermaphroditism with 46, XX/46 ,XY.
Yingxia CUI ; Peiyuan ZHU ; Xiaoqin YE ; Yuanzhe WU ; Yongmei WANG ; Honglin YIN ; Bing YAO ; Yufeng HUANG
National Journal of Andrology 2004;10(2):107-112
OBJECTIVETo report a true hermaphroditism due to a teragametic chimerism and to discuss the pathogenesis of tetragametic chimerism.
METHODSChromosomal analysis and fluorescence in situ hybridization(FISH) were carried out on the lymphocytes from the blood and on the fibroblasts from the cultured skin and on fibroblasts from two different kinds of gonadal tissues of the patient with ambiguous genitalia respectively. Blood groups, human leukocyte antigen (HLA) haplotyping and 77 short tandem repeat (STR) microsatellite markers were tested. The two kinds of tissues in the gonad were detected by histopathological examination. Blood groups, HLA haplotying and 77 STR microsatellite markers parents of the patient's were also analyzed.
RESULTSEither 46,XX or 46,XY karyotype was found in the lymphocytes of the blood and in the fibroblasts of the cultured skin and of the two different kinds of gonadal tissues. Two X chromosome-specific signals or one X and one Y signal were detected in each interphase nucleus by FISH from the lymphocytes of the blood and the fibroblasts of three different tissue cultures. The karyotype of the 46,XY cell line predominated in all cultures except the cultured-fibroblasts from yellow gonadal tissues. STR marker analysis, ABO grouping and HLA study from the patient were identified a single haplotype in the patient from the mother and two different haplotypes from the father. Two kinds of tissues in the gonad were observed by histopathological examination. The yellow tissue was ovary and the white one was testis.
CONCLUSIONSHistopathological examination and chromosomal analysis combined with FISH are very useful methods for the diagnosis of true hermaphroditism. Blood typing, HLA and short tandem repeat microsatellite markers afford strong evidence for confirming tetragametic chimerism. The mechanism of tetragametic chimerism in true hermaphroditism can be explained by a parthenogenetic division of a haploid nucleu into two identical gametes, followed by fertilization with both X and Y spermatozoa and then developed into an organism.
ABO Blood-Group System ; Chimera ; Disorders of Sex Development ; blood ; genetics ; pathology ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Sex Chromosomes
5.Clinicopathological characterization of true hermaphroditism complicated with seminoma and review of the literature.
Xing HUA ; Shao-Jie LIU ; Lin LU ; Chao-Xia LI ; Li-Na YU
National Journal of Andrology 2012;18(8):719-722
OBJECTIVETo study the clinicopathological characteristics and diagnosis of true hermaphroditism complicated with seminoma.
METHODSWe retrospectively analyzed the clinicopathological data of a case of true hermaphroditism complicated with seminoma and reviewed the related literature.
RESULTSThe patient was a 42-year-old male, admitted for bilateral lower back pain and discomfort. CT showed a huge mass in the lower middle abdomen. Gross pathological examination revealed a mass of uterine tissue, 7 cm x 2 cm x 6 cm in size, with bilateral oviducts and ovarian tissue. There was a cryptorchidism (4.0 cm x 2.5 cm x 1.5 cm) on the left and a huge tumor (22 cm x9 cm x6 cm) on the right of the uterine tissue. The tumor was completely encapsulated, with some testicular tissue. Microscopically, the tumor tissue was arranged in nests or sheets divided and surrounded by fibrous tissue. The tumor cells were large, with abundant and transparent cytoplasm, deeply stained nuclei, coarse granular chromatins, visible mitosis, and infiltration of a small number of lymphocytes in the stroma. The karyotype was 46, XX. Immunohistochemistry showed that PLAP and CD117 were positive, while the AFP, Vimentin, EMA, S100, CK-LMW, Desmin, CD34 and CD30 were negative, and Ki-67 was 20% positive. A small amount of residual normal testicular tissue was seen in the tumor tissue.
CONCLUSIONTrue hermaphroditism complicated with seminoma is rare. Histopathological analysis combined with immunohistochemical detection is of great value for its diagnosis and differential diagnosis.
Adult ; Humans ; Male ; Ovotesticular Disorders of Sex Development ; complications ; pathology ; Retrospective Studies ; Seminoma ; complications ; pathology ; Testicular Neoplasms ; complications ; pathology
6.SRY-positive 78, XY ovotesticular disorder of sex development in a wolf cloned by nuclear transfer.
Jung Taek KANG ; Hyung Jin KIM ; Hyun Ju OH ; So Gun HONG ; Jung Eun PARK ; Min Jung KIM ; Min Kyu KIM ; Goo JANG ; Dae Yong KIM ; Byeong Chun LEE
Journal of Veterinary Science 2012;13(2):211-213
Recently, we reported the three wolves cloning with normal karyotype from somatic cells of endangered male gray wolves (Canis lupus), but one wolf had female external genitalia. In this study, we conducted further clinical, histological, and genetic analyses. This cloned wolf had a normal uterus but developed ovotestis. Through molecular analysis of the SRY gene, a mutation in the coding sequence of SRY gene could be excluded as a cause of intersexuality. This is the first report of a cloned wolf with a 78, XY ovotesticular disorder affecting sexual development characterized by bilateral ovotestes.
Animals
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Cloning, Organism/*veterinary
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Female
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Karyotyping
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Mutation
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Nuclear Transfer Techniques/*veterinary
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Ovotesticular Disorders of Sex Development/pathology/*veterinary
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*Wolves
7.Clinical, genetic, and pathological analysis in 165 children with disorders of sex development.
Yan-Yan CAO ; Ke-Xin ZANG ; Ying-Ye LIU ; Qiang ZHANG ; Yun ZHOU ; Shuang ZHANG ; Yao-Fang XIA ; Lei LIU ; Xiao-Xiao CHEN ; Shi-Meng ZHAO ; Li-Jun LIU ; Xiao-Wei CUI
Chinese Journal of Contemporary Pediatrics 2023;25(11):1124-1130
OBJECTIVES:
To investigate the clinical phenotypes, genetic characteristics, and pathological features of children with disorders of sex development (DSD).
METHODS:
A retrospective analysis was conducted on epidemiological, clinical phenotype, chromosomal karyotype, gonadal pathology, and genotype data of 165 hospitalized children with DSD at Children's Hospital of Hebei Province and Tangshan Maternal and Child Health Hospital from August 2008 to December 2022.
RESULTS:
Among the 165 children with DSD, common presenting symptoms were short stature (62/165, 37.6%), clitoromegaly (33/165, 20.0%), cryptorchidism (28/165, 17.0%), hypospadias (24/165, 14.5%), and skin pigmentation abnormalities/exteriorized pigmented labia majora (19/165, 11.5%). Chromosomal karyotype analysis was performed on 127 cases, revealing 36 cases (28.3%) of 46,XX DSD, 34 cases (26.8%) of 46,XY DSD, and 57 cases (44.9%) of sex chromosome abnormalities. Among the sex chromosome abnormal karyotypes, the 45,X karyotype (11/57, 19%) and 45,X/other karyotype mosaicism (36/57, 63%) were more common. Sixteen children underwent histopathological biopsy of gonadal tissues, resulting in retrieval of 25 gonadal tissues. The gonadal tissue biopsies revealed 3 cases of testes, 3 cases of dysplastic testes, 6 cases of ovaries, 11 cases of ovotestes, and 1 case each of streak gonad and agenesis of gonads. Genetic testing identified pathogenic/likely pathogenic variants in 23 cases (23/36, 64%), including 12 cases of 21-hydroxylase deficiency congenital adrenal hyperplasia caused by CYP21A2 pathogenic variants.
CONCLUSIONS
Short stature, clitoromegaly, cryptorchidism, hypospadias, and skin pigmentation abnormalities are common phenotypes in children with DSD. 45,X/other karyotype mosaicism and CYP21A2 compound heterozygous variants are major etiological factors in children with DSD. The most commonly observed gonadal histopathology in children with DSD includes ovotestes, ovaries, and testes/dysgenetic testes.
Male
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Humans
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Child
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Disorders of Sex Development/pathology*
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Hypospadias/complications*
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Cryptorchidism/complications*
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Retrospective Studies
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Adrenal Hyperplasia, Congenital
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Steroid 21-Hydroxylase