Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence

2016 ◽  
Vol 86 (4) ◽  
pp. 621-627 ◽  
Author(s):  
He Huang ◽  
Chunqing Wang ◽  
Qinjie Tian
Keyword(s):  
Y Chromosome ◽  
Disorders Of Sex Development ◽  
Female Patients ◽  
Sex Development ◽  
Phenotypic Female

scholarly journals Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology

2019 ◽  
Vol 20 (20) ◽  
pp. 5017 ◽  
Author(s):  
Leendert H. J. Looijenga ◽  
Chia-Sui Kao ◽  
Muhammad T. Idrees
Keyword(s):  
Germ Cell ◽  
Y Chromosome ◽  
Association Studies ◽  
Cell Cancer ◽  
Disorders Of Sex Development ◽  
Germ Cell Cancer ◽  
Genome Wide Association Studies ◽  
Sex Development ◽  
Stage Of Development ◽  
Increased Risk

The risk of gonadal germ cell cancer (GGCC) is increased in selective subgroups, amongst others, defined patients with disorders of sex development (DSD). The increased risk is due to the presence of part of the Y chromosome, i.e., GonadoBlastoma on Y chromosome GBY region, as well as anatomical localization and degree of testicularization and maturation of the gonad. The latter specifically relates to the germ cells present being at risk when blocked in an embryonic stage of development. GGCC originates from either germ cell neoplasia in situ (testicular environment) or gonadoblastoma (ovarian-like environment). These precursors are characterized by presence of the markers OCT3/4 (POU5F1), SOX17, NANOG, as well as TSPY, and cKIT and its ligand KITLG. One of the aims is to stratify individuals with an increased risk based on other parameters than histological investigation of a gonadal biopsy. These might include evaluation of defined susceptibility alleles, as identified by Genome Wide Association Studies, and detailed evaluation of the molecular mechanism underlying the DSD in the individual patient, combined with DNA, mRNA, and microRNA profiling of liquid biopsies. This review will discuss the current opportunities as well as limitations of available knowledge in the context of predicting the risk of GGCC in individual patients.

Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome

2021 ◽  
pp. 1-9
Author(s):  
María C. Manotas ◽  
Mary García-Acero ◽  
Daniel M. González ◽  
Olga M. Moreno ◽  
Fernando Suárez-Obando ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Disorders Of Sex Development ◽  
Molecular Cytogenetics ◽  
Ambiguous Genitalia ◽  
Disorders Of Sexual Development ◽  
Sex Development ◽  
Y Chromosomes ◽  
Probable Loss ◽  
Mosaic Form ◽  
X Cells

Isodicentric Y chromosome [idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with reproductive disorders and in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45,X cell line. These chromosomes are highly unstable during mitosis due to the presence of 2 centromers, which explains their probable loss in early mitosis or mitosis of the embryo and therefore the presence of the 45,X line. It has been hypothesized that the proportion of 45,X cells in various tissues probably influences the phenotypic sex of individuals carrying an idic(Y) chromosome, ranging from infertile men, hypospadias, ambiguous genitalia, and Turner syndrome to sex reversal. In this article we present 5 cases of patients with idic(Y) referred for suspected disorder of sex development (DSD), 3 with a male assignment and 2 with a female assignment. All cases have variable clinical characteristics, which were assessed by the transdisciplinary group of Disorders of Sex Development of the Hospital Universitario San Ignacio, Bogotá, Colombia. Patients were analyzed by conventional and molecular cytogenetics using high-resolution G-band and FISH techniques. Our findings highlight the importance of cytogenetic studies in the diagnosis of DSD patients.

scholarly journals Increased risk of gonadal malignancy and prophylactic gonadectomy: a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences

2014 ◽  
Vol 29 (7) ◽  
pp. 1413-1419 ◽  
Author(s):  
A.-X. Liu ◽  
H.-Y. Shi ◽  
Z.-J. Cai ◽  
A. Liu ◽  
D. Zhang ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Female Patients ◽  
Increased Risk ◽  
Phenotypic Female

scholarly journals A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development

2018 ◽  
Vol 6 (9) ◽  
pp. 1671-1676
Author(s):  
Qing-Song Liu ◽  
Xing-Chun Zhu ◽  
Qiang Ma ◽  
Cheng He ◽  
Jian-Lan Shao
Keyword(s):  
Y Chromosome ◽  
De Novo ◽  
Disorders Of Sex Development ◽  
Partial Duplication ◽  
Sex Development

scholarly journals LEYDIG CELL HYPOPLASIA: A UNIQUE PARADOX IN THE DIAGNOSIS OF 46,XY DISORDERS OF SEX DEVELOPMENT

2020 ◽  
Vol 6 (3) ◽  
pp. e117-e122
Author(s):  
Sharmin Jahan ◽  
Muhammad Abul Hasanat ◽  
Fakhrul Alam ◽  
Mohammad Fariduddin ◽  
Tania Tofail
Keyword(s):  
Mutation Analysis ◽  
Leydig Cell ◽  
Disorders Of Sex Development ◽  
Genetic Mutation ◽  
Primary Amenorrhea ◽  
Diagnostic Dilemma ◽  
Sex Development ◽  
Testis Determination ◽  
Leydig Cell Hypoplasia ◽  
Phenotypic Female

Objective: Disorders of sex development (DSD) are defined as conditions in which chromosomal sex is inconsistent with phenotypic sex, or in which the phenotype is not classifiable as either male or female. Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or 46,XY DSD. Leydig cell hypoplasia (LCH), also known as Leydig cell agenesis, is a rare autosomal recessive endocrine syndrome of 46,XY DSD. Our objective here is to present the case of a 27-year-old, phenotypic female who presented with primary amenorrhea and later found to have LCH. Methods: We used formatted history and clinical examination followed by necessary hormonal investigations. The diagnosis was confirmed by histopathology of resected testes and genetic mutation analysis. Results: The patient's physical examination was unremarkable except 2 ovoid lumps present in the inguinovulvar region. There were no müllerian structures on sonography. Estrogen and both basal and stimulated testosterone levels were low whereas luteinizing hormone and follicle-stimulating hormone were high. Her chromosomal sex was found to be 46,XY. The histopathology of the resected inguinal lumps showed atrophic testicular change lacking Leydig cells with relative preservation of Sertoli cells. Genetic mutation analysis failed to reveal any significant aberration in the LHCGR gene. At present she is on estrogen replacement therapy having undergone bilateral orchidectomy and vaginoplasty. Conclusion: LCH represents a unique example of diagnostic dilemma in gender identification. It requires a multidisciplinary approach for optimum outcome.

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