Perspectives in Pediatric Pathology, Chapter 5. Gonadal Dysgenesis

No abstract is available for this paper.

• Publication year

  2015

• Venue

  Pediatric and Developmental Pathology

• Publication date

  2015-07-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.2350/14-04-1471-PB.1PMID 25105336
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Turner Syndrome: Pathophysiology, Diagnosis and Treatment

  2014cited by this paper
• Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold

  2013cited by this paper
• Hernia uterine inguinale: an uncommon cause of pelvic pain in the adult female patient.

  2010cited by this paper
• 46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis.

  2010cited by this paper
• A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.

  2010cited by this paper
• Campomelic dysplasia: a rare cause of congenital spinal deformity.

  2010cited by this paper
• Transverse testicular ectopia associated with persistent Müllerian duct syndrome: another entity in which magnetic resonance imaging is unreliable.

  2010cited by this paper
• Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness

  2010cited by this paper
• Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.

  2009cited by this paper
• Persistent Müllerian duct syndrome.

  2009cited by this paper
• Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.

  2009cited by this paper
• Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

  2009cited by this paper
• Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype.

  2009cited by this paper
• Evolutive study of children with diffuse mesangial sclerosis

  2009cited by this paper
• Vitamin A deficiency in an infant with PAGOD syndrome

  2009cited by this paper
• A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma.

  2009cited by this paper
• Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport.

  2009cited by this paper
• Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia

  2009cited by this paper
• Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters—A new syndrome

  2008cited by this paper
• Turner syndrome and clinical treatment.

  2008cited by this paper
• Achondroplasia Associated with Gonadal Dysgenesis

  2008cited by this paper
• Turner syndrome.

  2008cited by this paper
• A case report of successful pregnancy in a patient with pure 46,XY gonadal dysgenesis.

  2008cited by this paper
• A 46 XY Phenotypic Female Adolescent With Bilateral Gonadal Tumors Consisting of Five Different Components

  2008cited by this paper
• Mutations and Polymorphisms of the FSH Receptor (FSHR) Gene: Clinical Implications in Female Fecundity and Molecular Biology of FSHR Protein and Gene

  2008cited by this paper
• [A Case of 46,XY pure gonadal dysgenesis with loss of the sex-determining region of Y chromosome].

  2008cited by this paper
• Expanding the Clinical Spectrum of Frasier Syndrome

  2008cited by this paper
• Clinical and genetic findings of five patients with WT1-related disorders.

  2008cited by this paper
• Swyer syndrome: presentation and outcomes

  2008cited by this paper
• [New definitions and classifications of the intersexual states: in which the Chicago Consensus has contributed to the state of the art?].

  2007cited by this paper
• Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome.

  2007cited by this paper
• A case of PAGOD syndrome with hypoplastic left heart syndrome.

  2007cited by this paper
• As novas definições e classificações dos estados intersexuais: o que o Consenso de Chicago contribui para o estado da arte?

  2007cited by this paper
• Gene analysis in patients with premature ovarian failure or gonadal dysgenesis: a preliminary study.

  2007cited by this paper
• Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads.

  2006cited by this paper
• Consensus Statement on Management of Intersex Disorders

  2006cited by this paper
• Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.

  2006cited by this paper
• The Fragile X premutation: new insights and clinical consequences.

  2006cited by this paper
• [Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology].

  2006cited by this paper
• Frasier-Syndrom: Ein seltenes Syndrom mit WT1-Genmutation in der Kinderurologie

  2006cited by this paper
• Gonadoblastoma and Turner syndrome.

  2006cited by this paper
• WT1 and glomerular diseases

  2006cited by this paper
• Sox9 in Testis Determination

  2005cited by this paper
• Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis.

  2005cited by this paper
• Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.

  2005cited by this paper
• 328 NATURAL HISTORY OF PRENATALLY DIAGNOSED 46,X,ISODICENTRIC Y

  2005cited by this paper
• Dysgénésies gonadiques pures XX et XY : à propos de 15 cas

  2005cited by this paper
• Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

  2005cited by this paper
• [Turner's syndrome--correlation between karyotype and phenotype].

  2005cited by this paper
• The persistent Müllerian duct syndrome: A rare cause of cryptorchidism

  2005cited by this paper
• Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

  2005cited by this paper
• WAGR Syndrome: A Clinical Review of 54 Cases

  2005cited by this paper
• Gonadoblastomas in 5 patients with 46,XY gonadal dysgenesis.

  2005cited by this paper
• [Pure gonadal dysgenesis XX and XY: observations in fifteen patients].

  2005cited by this paper
• Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

  2004cited by this paper
• [Mixed gonadal dysgenesis].

  2004cited by this paper
• The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism

  2004cited by this paper
• XY gonadal dysgenesis: Genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis

  2004cited by this paper
• Epidemiological, endocrine and metabolic features in Turner syndrome.

  2004cited by this paper
• Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome

  2004cited by this paper
• XX‐agonadism in a fetus with multiple congenital anomalies

  2004cited by this paper
• Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation.

  2004cited by this paper
• Aberrant testicular differentiation in 46,XY gonadal dysgenesis: Morphology, endocrinology, serology

  2004cited by this paper
• 46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindred

  2003cited by this paper
• A case of gonadal dysgenesis, breast development, Graves' disease, and low bone mass.

  2003cited by this paper
• Early manifestations of testicular dysgenesis in children: pathological phenotypes, karyotype correlations and precursor stages of tumour development

  2003cited by this paper
• Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis.

  2003cited by this paper
• Early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis

  2003cited by this paper
• Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis

  2003cited by this paper
• Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads.

  2003cited by this paper
• A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.

  2003cited by this paper
• A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis

  2003cited by this paper
• 46,XY agonadism associated with adrenal adenoma/myelolipoma: report of a case analyzing Y-chromosome-specific sequences

  2003cited by this paper
• Molecular Analysis of Frasier Syndrome: Mutation in the WT1 Gene in a Girl with Gonadal Dysgenesis and Nephronophthisis

  2002cited by this paper
• Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome

  2002cited by this paper
• A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.

  2002cited by this paper
• Management of 46, XY partial gonadal dysgenesis--revisited.

  2002cited by this paper
• PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency.

  2002cited by this paper
• SHOX haploinsufficiency and its modifying factors.

  2002cited by this paper
• Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue.

  2002cited by this paper
• Ovarian dysgenesis with balanced autosomal translocation.

  2001cited by this paper
• Testicular pathology in 46,XY dysgenetic male pseudohermaphroditism: an approach to pathogenesis of testis cancer.

  2001cited by this paper
• Turner's syndrome.

  2001cited by this paper
• Compound Effects of Point Mutations Causing Campomelic Dysplasia/Autosomal Sex Reversal upon SOX9 Structure, Nuclear Transport, DNA Binding, and Transcriptional Activation*

  2001cited by this paper
• Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue.

  2001cited by this paper
• A case of bilateral seminoma in the setting of persistent mullerian duct syndrome.

  2001cited by this paper
• Clinical spectrum of Denys-Drash and Frasier syndrome

  2001cited by this paper
• Genetic study of SOX9 in a case of campomelic dysplasia.

  2001cited by this paper
• Turner’s syndrome mosaicism 45X/47XXX: An interesting natural history

  2001cited by this paper
• [Perrault's syndrome: two cases].

  2001cited by this paper
• Different chromosome Y abnormalities in Turner syndrome.

  2001cited by this paper
• 46, XY pure gonadal dysgenesis: a case with Graves' disease and exceptionally tall stature.

  2001cited by this paper
• Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies.

  2001cited by this paper
• Turner's syndrome and fertility: current status and possible putative prospects.

  2001cited by this paper
• Childhood cancer: a handbook from St Jude Children's Research Hospital.

  2001cited by this paper
• Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism.

  2001cited by this paper
• The Turner syndrome-associated neurocognitive phenotype maps to distal Xp.

  2000cited by this paper
• Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis

  2000cited by this paper
• A case of 45,X Turner syndrome with spontaneous ovulation proven by ultrasonography

  2000cited by this paper
• Sex reversal and diaphragmatic hernia in phenotypicaly female sibs with normal XY chromosomes.

  2000cited by this paper

• [Pediatric germ cell tumors: An update 2025].

  2026cites this paper
• Exploring the Association between Prenatal Growth and Differences in Sexual Development in Newborns.

  2025cites this paper
• Germ cell and other tumors in individuals with differences in sex development

  2025cites this paper
• Pediatric cancer predisposition syndromes involving non-central nervous system solid pediatric tumors: a review on their manifestations with a focus on histopathology

  2025cites this paper
• A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings

  2023cites this paper
• Gonadal tumour development in 46,XX disorders of gonadal development.

  2022cites this paper
• Pediatric germ cell tumors.

  2022cites this paper
• Consensus guide on prophylactic gonadectomy in different sex development.

  2022cites this paper
• Guía de consenso sobre la gonadectomía profiláctica en el desarrollo sexual diferente

  2022cites this paper
• Testicular Tumors: A Contemporary Update on Morphologic, Immunohistochemical and Molecular Features.

  2021cites this paper
• Disorders of sexual development in 46,XX individuals: an update

  2021cites this paper
• Nonneoplastic Diseases of the Testis

  2020cites this paper
• Genetics, Gonadal Dysgenesis

  2019cites this paper
• Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life

  2019cites this paper
• ♂♀Disorders of Sexual Development

  2019cites this paper
• Clinical Syndromes Associated with Streak Gonads with Epithelial Cords

  2017cites this paper
• Presence of Germ Cells in Disorders of Sex Development: Implications for Fertility Potential and Preservation

  2017cites this paper
• Pediatric Germ Cell Tumors

  2017cites this paper
• Usefulness of Histological Studies in Patients with the Androgen Insensitivity Syndrome

  2017cites this paper
• A novel morphological approach to gonads in disorders of sex development

  2016cites this paper
• Perspectives in Pediatric Pathology, Chapter 25. Testicular and Paratesticular Tumors in the Pediatric Age Group

  2016cites this paper
• Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience.

  2016cites this paper