Ovotesticular disorder of sexual development due to gonosomal mosaicism

This paper describes diagnosis and surgical treatment of a 3.5 year-old child who presented with abnormal sex differentiation resulting in the development of gonads into ovotestes. This disorder was provoked by a rare variant of mosaicism involving sex chromosome and characterized by the presence of an irregular marker chromosome. Additional genetic analysis allowed its origin to be determined: it was identified as Yp chromosome. Comprehensive examination yielded criteria for the choice of sexual identity and provided a basis for the surgical treatment in conformity with the gender being sought.

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Disorder of Sexual Development with Sex Chromosome Mosaicism 46 XY and 47 XXY

International Journal of Infertility & Fetal Medicine ◽

10.5005/jp-journals-10016-1058 ◽

2013 ◽

Vol 4 (1) ◽

pp. 34-37

Author(s):

Sampath Kumar Govindaraj ◽

Lakshmidevi Muralidhar ◽

Rajiv Kumar Saxena

Keyword(s):

Sexual Development ◽

Sex Chromosome ◽

Tanner Stage ◽

Testicular Atrophy ◽

Breast Development ◽

Primary Amenorrhea ◽

Cell Hyperplasia ◽

Chromosome Mosaicism ◽

Disorder Of Sexual Development ◽

Patient Reported

ABSTRACT Incidence of abnormalities of sex chromosome is reported to be 1 in 448 new born babies. The association between clinical phenotype and sex chromosome abnormality is highly variable. A 34-year-old unmarried female patient reported to out patient department with complaints of primary amenorrhea and occasional pain in the lower abdomen. On examination, her height was 160 cm and body mass index (BMI) was 27 kg/m2. Breast development was Tanner stage 4, pubic hair was tanners stage 1 and no axillary hair was noted. Ultrasonography showed a hypoechoic structure in the place of uterus measuring around 1.7 × 1.1 × 1.0 cm and hypoechoic structures were also noted in relation to iliac vessels suggestive of gonads. Karyotyping showed 46 XY and 47 XXY mosaicism. Bilateral gonadectomy was done and histopathology showed testicular atrophy with Leydig cell hyperplasia. This case is reported in view of the interesting clinical presentation of this rare mosaicism. How to cite this article Govindaraj SK, Muralidhar L, Venkatesh S, Saxena RK. Disorder of Sexual Development with Sex Chromosome Mosaicism 46 XY and 47 XXY. Int J Infertility Fetal Med 2013;4(1):34-37.

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Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome

Genes ◽

10.3390/genes11010078 ◽

2020 ◽

Vol 11 (1) ◽

pp. 78 ◽

Cited By ~ 1

Author(s):

Daniel A.F. Villagomez ◽

Eastman G. Welsford ◽

W. Allan King ◽

Tamas Revay

Keyword(s):

Sexual Development ◽

Genetic Variants ◽

Sex Chromosome ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Domestic Horse ◽

Androgen Insensitivity ◽

Thoroughbred Horse ◽

Disorder Of Sexual Development

In the domestic horse; failure of normal masculinization and virilization due to deficiency of androgenic action leads to a specific disorder of sexual development known as equine androgen insensitivity syndrome (AIS). Affected individuals appear to demonstrate an incoherency between their genetic sex and sexual phenotype; i.e., XY-sex chromosome constitution and female phenotypic appearance. AIS is well documented in humans. Here we report the finding of two novel genetic variants for the AR-gene identified in a Tennessee Walking Horse and a Thoroughbred horse mare; each in individual clinical cases of horse AIS syndrome.

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Lessons from an unusual vertebrate sex-determining gene

Philosophical Transactions of the Royal Society B Biological Sciences ◽

10.1098/rstb.2020.0092 ◽

2021 ◽

Vol 376 (1832) ◽

pp. 20200092 ◽

Cited By ~ 1

Author(s):

Sylvain Bertho ◽

Amaury Herpin ◽

Manfred Schartl ◽

Yann Guiguen

Keyword(s):

Sexual Development ◽

Regulatory Network ◽

Chromosome Evolution ◽

Sex Chromosome ◽

Sex Differentiation ◽

Sexually Dimorphic ◽

Sex Chromosome Evolution ◽

Theme Issue ◽

Single Exception ◽

Sex Locus

So far, very few sex-determining genes have been identified in vertebrates and most of them, the so-called ‘usual suspects’, evolved from genes which fulfil essential functions during sexual development and are thus already tightly linked to the process that they now govern. The single exception to this ‘usual suspects’ rule in vertebrates so far is the conserved salmonid sex-determining gene, sdY (sexually dimorphic on the Y chromosome), that evolved from a gene known to be involved in regulation of the immune response. It is contained in a jumping sex locus that has been transposed or translocated into different ancestral autosomes during the evolution of salmonids. This special feature of sdY , i.e. being inserted in a ‘jumping sex locus’, could explain how salmonid sex chromosomes remain young and undifferentiated to escape degeneration. Recent knowledge on the mechanism of action of sdY demonstrates that it triggers its sex-determining action by deregulating oestrogen synthesis that is a conserved and crucial pathway for ovarian differentiation in vertebrates. This result suggests that sdY has evolved to cope with a pre-existing sex differentiation regulatory network. Therefore, ‘limited options’ for the emergence of new master sex-determining genes could be more constrained by their need to tightly interact with a conserved sex differentiation regulatory network rather than by being themselves ‘usual suspects’, already inside this sex regulatory network. This article is part of the theme issue ‘Challenging the paradigm in sex chromosome evolution: empirical and theoretical insights with a focus on vertebrates (Part I)’.

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Expression of mRNA Mastermind-like Domain-containing 1, Androgen Receptor, and Estrogen Receptor in Patients with Hypospadias

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2020.4557 ◽

2020 ◽

Vol 8 (A) ◽

pp. 543-547

Author(s):

Prahara Yuri ◽

Didik Setyo Heriyanto ◽

Arry Rodjani ◽

Yonas Immanuel Hutasoit ◽

Andre Yudha Alfanius Hutahaean ◽

...

Keyword(s):

Sexual Development ◽

Sex Differentiation ◽

Quantitative Polymerase Chain Reaction ◽

Critical Periods ◽

Positive Correlation ◽

Testosterone Production ◽

Sex Development ◽

Disorder Of Sexual Development ◽

One Step

BACKGROUND: Androgen (AR) and Estrogen (ER) hormones play an important role in the prenatal and postnatal development of the urogenital tract and especially the penis. Growth factors also influence the development of genital structures. Little is known about the exact role of Mastermind Like Domain 1 (MAMLD1) in sexual development. A role in sex differentiation through supporting testosterone production in critical periods of male development has been suggested. MAMLD1 mutations result in hypospadias with and without a disorder of sexual development (DSD) primarily because of compromised testosterone production around the critical period for fetal sex development, but the underlying etiology remains unclear. AIM: The objective of this study was to investigate the correlation between gene factor MAMLD1, AR, ER1, and ER2 with the incidence of hypospadias. OBJECTIVE: The objective of this study was to investigate the correlation between gene factor MAMLD1, AR, ER1, and ER2 with the incidence of hypospadias. METHODS: From 2017-2018, peri-urethral dartos were harvested from 46 patients with proximal hypospadias, 24 patients with distal hypospadias and 10 patients with normal penile were used as controls. The expressions of MAMLD1, AR, ER1, and ER2 were investigated by one-step quantitative polymerase chain reaction. RESULTS: Median age was 5 years old in the 70 patients with hypospadias and 6 years old in the control subjects. Total specimens taken included 24 distal penile, 46 proximal penile, and 10 normal penile specimens. We found decreasing MAMLD1 and AR expressions, but ER2 expression increased in patients with hypospadias compared to controls, which was statistically significant (p < 0.001). A positive correlation between MAMLD1 and AR was found in patients with hypospadias (r = 0.062; p = 0.038). CONCLUSIONS: Decreasing of MAMLD1 and AR expression was followed by increasing ER2 expression in patients with hypospadias. MAMLD1 had a positive correlation with AR so the defect of MAMLD1 may influence AR and increase the incidence of hypospadias.

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Protein expression reveals a molecular sexual identity of avian primordial germ cells at pre-gonadal stages

Scientific Reports ◽

10.1038/s41598-021-98454-2 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Laura Soler ◽

Sabine Alves ◽

Aurélien Brionne ◽

Aurore Jacques ◽

Vanessa Guérin ◽

...

Keyword(s):

Genetic Resources ◽

Sexual Identity ◽

Cell Fate ◽

Germ Cells ◽

Sex Chromosome ◽

Sex Differentiation ◽

Primordial Germ Cells ◽

Specific Cell ◽

Male And Female

AbstractIn poultry, in vitro propagated primordial germ cells (PGCs) represent an important tool for the cryopreservation of avian genetic resources. However, several studies have highlighted sexual differences exhibited by PGCs during in vitro propagation, which may compromise their reproductive capacities. To understand this phenomenon, we compared the proteome of pregonadal migratory male (ZZ) and female (ZW) chicken PGCs propagated in vitro by quantitative proteomic analysis using a GeLC-MS/MS strategy. Many proteins were found to be differentially abundant in chicken male and female PGCs indicating their early sexual identity. Many of the proteins more highly expressed in male PGCs were encoded by genes localised to the Z sex chromosome. This suggests that the known lack of dosage compensation of the transcription of Z-linked genes between sexes persists at the protein level in PGCs, and that this may be a key factor of their autonomous sex differentiation. We also found that globally, protein differences do not closely correlate with transcript differences indicating a selective translational mechanism in PGCs. Male and female PGC expressed protein sets were associated with differential biological processes and contained proteins known to be biologically relevant for male and female germ cell development, respectively. We also discovered that female PGCs have a higher capacity to uptake proteins from the cell culture medium than male PGCs. This study presents the first evidence of an early predetermined sex specific cell fate of chicken PGCs and their sexual molecular specificities which will enable the development of more precise sex-specific in vitro culture conditions for the preservation of avian genetic resources.

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Programming of the reproductive axis by hormonal and genetic manipulation in mice

Reproduction ◽

10.1530/rep-18-0054 ◽

2018 ◽

Cited By ~ 2

Author(s):

Susana B Rulli ◽

María Julia Cambiasso ◽

Laura D Ratner

Keyword(s):

Sex Chromosome ◽

Genetic Manipulation ◽

Sex Differentiation ◽

Reproductive Function ◽

Gonadal Steroids ◽

Critical Periods ◽

Female Reproduction ◽

Control Male ◽

Male And Female ◽

The Brain

In mammals, the reproductive function is controlled by the hypothalamic-pituitary-gonadal axis. During development, mechanisms mediated by gonadal steroids exert an imprinting at the hypothalamic-pituitary level, by establishing sexual differences in the circuits that control male and female reproduction. In rodents, the testicular production of androgens increases drastically during the fetal/neonatal stage. This process is essential for the masculinization of the reproductive tract, genitals and brain. The conversion of androgens to estrogens in the brain is crucial for the male sexual differentiation and behavior. Conversely, feminization of the brain occurs in the absence of high levels of gonadal steroids during the perinatal period in females. Potential genetic contribution to the differentiation of brain cells through direct effects of genes located on sex chromosomes is also relevant. In this review, we will focus on the phenotypic alterations that occur on the hypothalamic-pituitary-gonadal axis of transgenic mice with persistently elevated expression of the human chorionic gonadotropin hormone (hCG). Excess of endogenously synthesized gonadal steroids due to a constant hCG stimulation is able to disrupt the developmental programming of the hypothalamic-pituitary axis in both transgenic males and females. Locally produced estrogens by the hypothalamic aromatase might play a key role in the phenotype of these mice. The “four core genotypes” mouse model demonstrated a potential influence of sex chromosome genes in brain masculinization before critical periods of sex differentiation. Thus, hormonal and genetic factors interact to regulate the local production of the neurosteroids necessary for the programming of the male and female reproductive function.

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Psychological Problem in Pediatric Disorder of Sex Development Patient and Relatives

Open Access Indonesian Journal of Medical Reviews ◽

10.37275/oaijmr.v1i2.552 ◽

2021 ◽

Vol 1 (2) ◽

pp. 24-27

Author(s):

Erlangga Danu Saputro

Keyword(s):

Sexual Development ◽

Psychosocial Problems ◽

Psychological Problem ◽

Systematic Search ◽

Basic Data ◽

Disorder Of Sex Development ◽

Sex Development ◽

Disorder Of Sexual Development ◽

Counselling Program

Disorder of sexual development (DSD) is one of challenging disorder that has to be done clinically and physiologically. The patients and relatives may experience various psychosocial problems that have an impact on their live. The aim of this study is to look at psychological problem in children with DSD and their relatives. A systematic search was conducted in PubMed for articles representing information on psychological problem to the patient and their relatives. Relevant data were extracted and narratively reviewed. The result of this review can be used as basic data in the development of counselling program for the patients and their relatives.

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