Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review

2019 ◽  
Vol 13 (5-6) ◽  
pp. 221-227
Author(s):  
Mona K. Mekkawy ◽  
Alaa K. Kamel ◽  
Nabil Dessouky ◽  
Mohamed Elgharbawy ◽  
Inas Mazen
Keyword(s):  
Literature Review ◽  
Sex Chromosome ◽  
Genetic Disorder ◽  
Large Cohort ◽  
Fish Analysis ◽  
Imaging Studies ◽  
Live Births ◽  
Sex Development ◽  
Gonadal Biopsy ◽  
Combination Frequencies

Ovotesticular difference of sex development (OT DSD) is a rare genetic disorder with an incidence of about 1/100,000 live births. The majority of OT DSD patients show a 46,XX karyotype, others may have 46,XX/46,XY chimerism or exhibit various mosaic sex chromosome combinations, and less commonly they may have a 46,XY karyotype. The aim of this work is to report the clinical, pathological, and karyotypic variations in OT DSD patients diagnosed among a large cohort of DSD patients. The study included 10 patients thoroughly evaluated for clinical, genital, and hormonal abnormalities and subjected to imaging studies, laparoscopy with gonadal biopsy, karyotype, and FISH analysis. The current study revealed a greater percentage of mosaic cell line combinations than previously reported and showed variable cytogenetic abnormalities, including the rare isodicentric (Y)(p11.32) abnormality and X;Y translocation. The study also revealed a unique pattern of gonadal type and combination frequencies. To our knowledge, this is the first study on OT DSD patients among a large cohort of DSD patients in Egypt and the Middle East.

Ovotesticular disorder of sex development with unusual karyotype: patient report

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
Georgette Beatriz Paula ◽  
Juliana Gabriel Ribeiro Andrade ◽  
Guilherme Guaragna-Filho ◽  
Letícia Esposito Sewaybricker ◽  
Márcio Lopes Miranda ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Single Case ◽  
Patient Report ◽  
Disorder Of Sex Development ◽  
Second Child ◽  
Sex Development ◽  
Sex Assignment ◽  
Male Sex ◽  
Gonadal Biopsy ◽  
The Right

AbstractOvotesticular disorder of sex development (OT-DSD) (true hermaphroditism) is an anatomopathological diagnosis based on the findings of testicular and ovarian tissues in the same subject, in the same gonad (ovotestis), or in separate gonads. OT-DSD is a rare cause of sex ambiguity, and the most common karyotype is 46,XX; mosaics and chimeras are found only in 10%–20%.To report a case of an OT-DSD patient with a rare karyotype constitution.A 2-month-old child with male sex assignment was referred to our clinic for investigation of sex ambiguity. He was the second child of healthy unrelated parents; pregnancy and labor were uneventful. On physical examination, he had a 2.3-cm phallus and perineal hypospadias (Prader grade III); the right gonad was in the labioscrotal fold and the left was found in the inguinal channel. Karyotype was 46,XX/47,XXY/48,XXYY. Anatomopathological examination of gonads revealed right testis and left ovotestis. The male sex assignment was maintained; the child underwent left gonadectomy, removal of Mullerian structures and urethroplasty.A thorough revision of literature revealed a single case of OT-DSD with the same chromosome constitution. Gonadal biopsy is necessary to establish diagnosis in cases of sex chromosome mosaicism.

CLINICAL CONFERENCE

PEDIATRICS ◽  
1957 ◽  
Vol 20 (4) ◽  
pp. 740-746
Author(s):  
Melvin M. Grumbach
Keyword(s):  
Sex Difference ◽  
Sex Chromosome ◽  
Good Evidence ◽  
Polymorphonuclear Neutrophils ◽  
Vaginal Mucosa ◽  
Simple Method ◽  
X Chromosomes ◽  
Cytologic Examination ◽  
Sex Development ◽  
Sex Chromatin

Dr. Grumbach: Barr and associates have demonstrated that in the human the majority of somatic cells of females contain a conspicuous, heterochromatic mass of chromatin in the resting nuclei. Their discovery of a sex-difference in intermitotic nuclei of a number of vertebrate species, including man, has provided a relatively simple method for assessing the sex-chromosome constitution. This chromatin mass is about 1 micron in diameter and often plano-convex in configuration. It is usually located against the inner surface of the nuclear membrane and contains desoxyribonucleic acid. In males, a comparable chromatin mass is rarely found, never in more than a few per cent of the nuclei. There is good evidence that this so-called "sexchromatin" represents the fusion of heterochromatic portions of two X-chromosomes. The sex chromatin can be conveniently determined by examination of specimens of skin obtained by biopsy (Fig. 1). Recently, more practical methods for determining cytologic sex have been described employing smears from readily available tissues, such as the oral and vaginal mucosa (Fig. 2) and the blood. Davidson and Smith have shown that there is a sex difference in the morphology of polymorphonuclear neutrophils. Cytologic examination of chromosomal sex has provided an important tool for the investigation of anomalies of sex development. Apart from its ancillary role in diagnosis, cytologic examination of sex chromatin has made a significant contribution to our understanding of the disordered development in these afflictions. However, the results of this determination should not be regarded as an especial indication of the psychosexual orientation of patients with such abnormalities, nor, in the case of infants, of the sex to which they should be assigned.

Long-Term Surgical Outcome of Masculinizing Genitoplasty in Large Cohort of Patients With Disorders of Sex Development

2010 ◽  
Vol 184 (3) ◽  
pp. 1122-1127 ◽  
Author(s):  
Maria Helena Palma Sircili ◽  
Frederico Arnaldo de Queiroz e Silva ◽  
Elaine M.F. Costa ◽  
Vinicius N. Brito ◽  
Ivo J.P. Arnhold ◽  
...  
Keyword(s):  
Surgical Outcome ◽  
Disorders Of Sex Development ◽  
Large Cohort ◽  
Sex Development

scholarly journals Blake's Pouch Cyst: A Case Report

2017 ◽  
Vol 06 (02) ◽  
pp. 122-125
Author(s):  
Saurabh Verma ◽  
M. Sridhar ◽  
S. Shashivadhanan ◽  
Manish Garg
Keyword(s):  
Genetic Counseling ◽  
Case Report ◽  
Literature Review ◽  
Posterior Fossa ◽  
Clinical Management ◽  
In Utero ◽  
Prenatal Ultrasound ◽  
Male Child ◽  
Imaging Studies ◽  
Initial Imaging

AbstractIt is a rare and underdiagnosed entity. The adagium “one only sees what one knows” is certainly true in cases of Blake's pouch cyst, as all types of posterior fossa cysts and cyst-like malformations may present nearly identical on initial imaging studies. Only one case of Blake's pouch cyst has been reported from this country, except for a case in utero, in which a diagnosis of Blake's pouch cyst was made on prenatal ultrasound and later confirmed by MRI. In this report we describe a case of Blake's pouch cyst in a 9-month-old male child along with the principles of diagnosis of Blake's pouch cyst, in combination with literature review. Differentiating Blake's pouch cyst from other posterior fossa cysts and cyst-like malformations and recognizing the accompanying hydrocephalus that are essentially noncommunicating have important implications not only on clinical management but also on genetic counseling, which is unnecessary in case of Blake's pouch cyst.

scholarly journals Literature Review The Relationship Of Antenatal Class Towards Mothers’ Knowledge Of DangerousSign During Pregnancy

2021 ◽  
Vol 3 (2) ◽  
Author(s):  
Ayu Kurniati ◽  
Enny Fitriahadi
Keyword(s):  
Developing Countries ◽  
Mortality Rate ◽  
Literature Review ◽  
World Health ◽  
Live Births ◽  
Complication Risk ◽  
The World ◽  
Health Organization ◽  
Relationship Of ◽  
The Relationship

IN 2013, the World Health Organization, released data in the form of Maternal Mortality Rate (MMR) worldwide, and the number reached 289,000 per 100, 000 live births, which 99% of cases occurred in developing countries. Research aims to discover the relationship of antenatal class towards mothers’ knowledge of the dangerous sign during pregnancy. The result showed that there is a relationship of antenatal class towards mothers’ knowledge of dangerous sign during pregnancy, From this result, the researcher concludes that antenatal class could increase mothers’ knowledge of dangerous sign during pregnancy and may decrease the complication risk during the childbirth.

Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review

2006 ◽  
Vol 140A (15) ◽  
pp. 1696-1706 ◽  
Author(s):  
Ying S. Zou ◽  
Daniel L. Van Dyke ◽  
Erik C. Thorland ◽  
Harinderpal S. Chhabra ◽  
Virginia V. Michels ◽  
...  
Keyword(s):  
Literature Review ◽  
Seizure Disorder ◽  
Fish Analysis

scholarly journals Cerebellar glioblastoma multiforme in an adult

2006 ◽  
Vol 64 (1) ◽  
pp. 132-135 ◽  
Author(s):  
João Paulo Mattos ◽  
Horacio Armando Marenco ◽  
José Maria Campos ◽  
Andréa Vasconcellos Faria ◽  
Luciano Souza Queiroz ◽  
...  
Keyword(s):  
Glioblastoma Multiforme ◽  
Literature Review ◽  
Treatment Options ◽  
Rare Tumor ◽  
Imaging Studies ◽  
Brazilian Literature ◽  
The Third ◽  
Pathological Characteristics ◽  
Cerebellar Glioblastoma ◽  
High Degree

Cerebellar glioblastoma multiforme (GBM) is a rare tumor. This is the third case published in Brazilian literature and, the last one has been described more than 15 years ago. The aggressive behavior of GBM prompts for fast treatment, which can be hampered by the fact that the diagnosis of GBM requires a high degree of suspicion. We describe a case of GBM in a 46 years old man. In conjunction, we present a literature review including particular issues, clinical data, advances in imaging studies, pathological characteristics, treatment options and the behavior of such malignant tumor.

scholarly journals Shifting syndromes: Sex chromosome variations and intersex classifications

2018 ◽  
Vol 48 (1) ◽  
pp. 125-148 ◽  
Author(s):  
David Andrew Griffiths
Keyword(s):  
Lived Experience ◽  
Classification System ◽  
Consensus Statement ◽  
Sex Chromosome ◽  
Disorders Of Sex Development ◽  
Current Drive ◽  
Medical Community ◽  
New Classification ◽  
Sex Development

The 2006 ‘Consensus statement on management of intersex disorders’ recommended moving to a new classification of intersex variations, framed in terms of ‘disorders of sex development’ or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter’s syndromes should be included. This article explores initial descriptions of Turner and Klinefelter’s syndromes and their subsequent inclusion in intersex classifications, which were increasingly grounded in scientific understandings of sex chromosomes that emerged in the 1950s. The article questions the current drive to stabilize and ‘sort out’ intersex classifications through a grounding in genetics. Alternative social and historical definitions of intersex – such as those proposed by the intersex activists – have the potential to do more justice to the lived experience of those affected by such classifications and their consequences.

Observational study of disorders of sex development in Yaounde, Cameroon

2020 ◽  
Vol 33 (3) ◽  
pp. 417-423
Author(s):  
Suzanne Ngo Um Sap ◽  
Ritha Mbono Betoko ◽  
Martine Etoa Etoga ◽  
Pierre Yves Mure ◽  
Yves Morel ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Disorders Of Sex Development ◽  
Central Africa ◽  
Main Diagnosis ◽  
Pediatric Endocrinology ◽  
Endocrine Society ◽  
Sex Development ◽  
Mother And Child ◽  
Study Population ◽  
Sub Saharan

AbstractIntroductionAccording to the current classification of the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Pediatric Endocrinology (ESPE) of Disorders of Sex Development (DSD), etiologies vary around the world. Ethnic or genetic diversity probably explains this variability. We therefore conducted the present study on etiologies of DSDs in a country from central Africa.MethodsWe carried out an observational retrospective study at the Pediatric Endocrinology Unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde, Cameroon from May 2013 to December 2019. All patients diagnosed with a DSD were included, and incomplete files excluded.ResultsWe included 80 patients diagnosed with DSD during the study period. The 46,XX DSD were the most frequent in our study population (n = 41, 51.25%), with congenital adrenal hyperplasia (CAH) as the main diagnosis. The 46,XY DSD accounted for 33.75% and sex chromosome DSD group represented 15% of the study population.ConclusionsDSDs are not an exceptional diagnosis in a Sub-Saharan context. 46,XX DSD are the most prevalent diagnosis in our setting. The diagnosis of all these affections is late compared to other centers, justifying advocacy for neonatal screening of DSDs in our context.

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