Down syndrome with Disorder of Sex development (DSD): A Rare Presentation

Down syndrome is the most common genetic disorder among live born infants, which is associated with a number of congenital malformations and requires a huge medical and social cost. Here, we report a very rare association in an infant with Down syndrome and XY disorder of sex development (DSD). Bangladesh J Child Health 2020; VOL 44 (1) :48-51

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Disorder of Sex Development, Mosaic Genetic Disorder 45x, 46xy: A Case Report

BioScientia Medicina ◽

10.37275/bsm.v6i2.449 ◽

2021 ◽

Vol 6 (2) ◽

pp. 1393-1398

Author(s):

Awan Nurtjahyo ◽

Asep Nurul Huda ◽

A. Abadi ◽

Aditiawati ◽

Yulisnawati H ◽

...

Keyword(s):

Negative Emotion ◽

Genetic Disorder ◽

Voiding Cystourethrography ◽

Term Therapy ◽

Normal Female ◽

Disorder Of Sex Development ◽

Labia Minora ◽

Sex Development ◽

Labia Majora ◽

Genital Ambiguity

Background. Disorder of sex development (DSD) is a congenital disorder associated with interference in chromosomes, gonads, or sexes anatomically. Individual affected with DSD can be recognized since birth due to external genital ambiguity. Sexual chromosome DSD occurred because sexual chromosome numeric or structural disorder. Mosaic karyotype 45X/46XY is among the rare sexual chromosome DSD with incidence less than 1:15,000 live births. DSD individuals are susceptible to stigmatization. This can cause stress, negative emotion, and social isolation. Therefore, DSD individual management should be done as optimal as possible. Case Presentation: Twelve years old girl complaining a bump arose from anterior side of her genital resembles male genital since 4 years prior to admission without micturition and defecation complains. Patient has not experienced menarche. On external genital examination, we found the normal female external genital such as mons pubis, pubic hair, labia majora, labia minora, hymen, perineum, but without clitoris which in this case it is replaced by a glans of penis, arising from anterior commissure of labia majora area, with an urethral estuary. Before the management is done, patient underwent multidiscipline consultations and further examinations. Subsequently, it was approved that the joint conference formation consisting obstetric and gynecology, urologist, and pediatric endocrinologist to determine the optimal management for the patient. Conclusion: In this case, diagnosis was made with history taking, clinical examination, and supporting investigation such as ultrasound imaging and could be followed by biochemistry test, voiding cystourethrography or genitogram to determine next management. Counseling should be done in detail towards the family to know what action is best for the patient. Multidiscipline team was required to get the optimum result either in medical, ethical, or religious point of view. Surgery in this case was considered followed by long term therapy afterwards.

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Lamivudine, a Reverse Transcriptase Inhibitor, Rescues Cognitive Deficits in a Mouse Model of Down Syndrome

10.21203/rs.3.rs-1158032/v1 ◽

2021 ◽

Author(s):

Maria Martinez de Lagran ◽

Aleix Elizalde-Torrent ◽

Roger Paredes ◽

Bonaventura Clotet ◽

Mara Dierssen

Keyword(s):

Down Syndrome ◽

Reverse Transcriptase ◽

Cognitive Deficits ◽

Genetic Disorder ◽

Transcriptase Inhibitor ◽

Wide Range ◽

Elevated Activity ◽

Reverse Transcriptase Inhibitor ◽

Common Genetic Disorder ◽

Genetic Form

Abstract An elevated activity of retrotransposons is increasingly recognized to be implicated in a wide range of neurodegenerative and neurodevelopmental diseases. Down syndrome (DS) is the most common genetic disorder associated with intellectual disability and a genetic form of Alzheimer’s disease. For this reason, we hypothesized that treatment with reverse transcriptase inhibitors could ameliorate DS phenotypes. In this proof of concept study, we treated trisomic (Ts65Dn) mice, a model of DS, with lamivudine, a reverse transcriptase inhibitor. We detected a significant improvement of neurobehavioral phenotypes, and a complete rescue of the hippocampal-dependent recognition memory upon treatment with lamivudine. Despite clinical studies in patients with DS are warranted, this study lays the groundwork for a novel and actionable therapeutic approach.

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Hypoparathyroidism and disorder of sex development: A rare association

Medicina Clínica (English Edition) ◽

10.1016/j.medcle.2017.11.030 ◽

2018 ◽

Vol 150 (1) ◽

pp. 40-41

Author(s):

M. Cristina Vera Sáez-Benito ◽

Diego Álvarez Ballano ◽

Antonio de Arriba Muñoz

Keyword(s):

Disorder Of Sex Development ◽

Rare Association ◽

Sex Development

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XX testicular disorder of sex development with Down syndrome

Middle East Journal of Medical Genetics ◽

10.1097/01.mxe.0000449829.69875.e5 ◽

2014 ◽

Vol 3 (2) ◽

pp. 70-75

Author(s):

Inas M. Mazen ◽

Mona K. Mekkawy ◽

Alaa K. Kamel ◽

Manal M. Thomas ◽

Mona O. El Ruby

Keyword(s):

Down Syndrome ◽

Disorder Of Sex Development ◽

Sex Development

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Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts

Biomolecules ◽

10.3390/biom10040653 ◽

2020 ◽

Vol 10 (4) ◽

pp. 653 ◽

Cited By ~ 7

Author(s):

Theodora Panagaki ◽

Elisa B. Randi ◽

Csaba Szabo

Keyword(s):

Down Syndrome ◽

Genetic Disorder ◽

Chromosome 21 ◽

Functional Impairments ◽

Functional Deficits ◽

Mercaptopyruvate Sulfurtransferase ◽

Healthy Control ◽

Cellular Bioenergetics ◽

Common Genetic Disorder

Down syndrome (trisomy of human chromosome 21) is a common genetic disorder. Overproduction of the gaseous mediator hydrogen sulfide (H2S) has been implicated in the pathogenesis of neurological and metabolic deficits associated with Down syndrome. Several lines of data indicate that an important enzyme responsible for H2S overproduction in Down syndrome is cystathionine-β-synthase (CBS), an enzyme localized on chromosome 21. The current study explored the possibility that a second H2S-producing enzyme, 3-mercaptopyruvate sulfurtransferase (3-MST), may also contribute to the development of functional deficits of Down syndrome cells. Western blotting analysis demonstrated a significantly higher level of 3-MST protein expression in human Down syndrome fibroblasts compared to cells from healthy control individuals; the excess 3-MST was mainly localized to the mitochondrial compartment. Pharmacological inhibition of 3-MST activity improved mitochondrial electron transport and oxidative phosphorylation parameters (but did not affect the suppressed glycolytic parameters) and enhanced cell proliferation in Down syndrome cells (but not in healthy control cells). The findings presented in the current report suggest that in addition to the indisputable role of CBS, H2S produced from 3-MST may also contribute to the development of mitochondrial metabolic and functional impairments in Down syndrome cells.

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A Rare Presentation of Disorder of Sex Development

Cureus ◽

10.7759/cureus.12782 ◽

2021 ◽

Author(s):

Sara Ashfaq ◽

Ahmed Siddiqui ◽

Waqas Shafiq ◽

Umal Azmat

Keyword(s):

Rare Presentation ◽

Disorder Of Sex Development ◽

Sex Development

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Orthodontic Aspects on the Chronological and Dental Age in Children with Down Syndrome

Revista de Chimie ◽

10.37358/rc.18.1.6075 ◽

2018 ◽

Vol 69 (1) ◽

pp. 208-213

Author(s):

Mariana Pacurar ◽

Bogdan Dragomir ◽

Alina Silvana Szalontay ◽

Cristian Romanec

Keyword(s):

Down Syndrome ◽

Emotional Disorders ◽

Metabolic Diseases ◽

Genetic Disorder ◽

Signs And Symptoms ◽

Deciduous Teeth ◽

Healthy Children ◽

Dental Maturation ◽

Children With Down Syndrome ◽

The Family

Genetics is a key discipline in medicine, but also a clinical discipline with medical and social implications. The interest in reducing the number of genetic disorders and recognizing the risk of them repeating when a family confronts itself with a genetic anomaly becomes more and more important in the hierarchy of prophylactic emergencies. Presenting themselves as metabolic diseases (monogenic mutations) or malformations (polygenic and multifactorial heredity) because of their frequency, these disorders position themselves on an ascendant curve. They become difficult to deal with for the society, for the family and for the interested individual and cause emotional disorders. The Down syndrome is the most frequent type of genetic disorder. It is characterized by a specific set of signs and symptoms. People with Down syndrome require special medical care that, apart from the family, must include a team of doctors of various specializations and also a dentist. They are predisposed to hearing and sight disorders and thyroid problems as well. In 50% of the cases there are also anomalies of the heart, and the risk of leukaemia is 20 times higher. Some of them even develop an Alzheimer type dementia during their life. The people with Down syndrome can have an average IQ up to a moderate form of handicap. In particular, the studies on Down syndrome in dentistry are quite frequent, but they focus more on cavities, periodontal disease and hypodontia. In spite of this, the connection of Down syndrome and dental eruption is less studied. Consequently, the present study is intended to fill this missing part from the specialized literature, focusing on the relation between the Down syndrome and the chronological and dental ages in children. The health of the oral cavity is neglected in these patients, their parents focusing more on the treatment of the other systemic disorders of their children; the lack of interest is reflected in their poor oral hygiene.The trial group included 94 children with mixt dentition, aged between 6 and 12, divided as follows: 36 children with Down syndrome enrolled at the Educational Centre for Inclusive Education no. 1 of Tg. Mures and Alpha Transilvana Foundation. The chronology and the eruption sequences are subjected to certain variations and they are influenced by the presence of cavities, the premature loss or, on the contrary, the prolonged retention of deciduous teeth as well as dental anchylosis. Dental maturation is less subjected to variations, as it is a progressive, continuous and cumulative process. The presence of Down syndrome in children generates a delay in teeth eruption by 1.27 years compared to the data identified in the specialized literature and to the information obtained on the healthy children included in the study.

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