Abnormal sex differentiation. Medical search. Frequent questions

On the C57BL/6J background, embryos homozygous for byg exhibit consistent XY gonadal sex reversal. (plos.org)
Finally, we provide evidence that haploinsufficiency for Map3k4 accounts for T-associated sex reversal ( Tas ). (plos.org)
We identified a mouse mutant that causes embryonic gonadal sex reversal: the development of ovaries in an XY embryo. (plos.org)
Analysis of embryonic XY gonads suggests that sex reversal is caused by delayed and reduced expression of the sex-determining gene SRY . (plos.org)
The only true Y chromosome structural rearrangements, reported so far, are large-scale ECAY deletions in 64,XY sex reversal mares (Raudsepp et al. (veteriankey.com)
Rarely, others include palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome (caused by biallelic RSPO1 gene variants), SERKAL syndrome (recessive WNT4 variants). (orpha.net)
An abnormal interchange between PRKX aand PRKY leads to the sex reversal disorder of XX males and XY females. (umbc.edu)
Mutations in this gene are responsible for sex reversal in approximately 10-15% of 46,XY pure gonadal dysgenesis (46,XY DSD) cases. (biomedcentral.com)
Mutations in the SRY gene are known to be involved in 46,XY sex reversal and are found in approximately 15% of 46,XY gonadal dysgenesis cases [ 10 ]. (biomedcentral.com)

The type of gonad present determines the differentiation/regression of the internal ducts (ie, müllerian and wolffian ducts) and ultimately determines the phenotypic sex. (medscape.com)
The genetic sex (whether the individual is XX or XY) determines the gonadal sex (whether there are ovaries or testis), which through hormonal secretions determines the phenotypic sex. (serendipstudio.org)

Differences (disorders) of sex development (DSDs), formerly termed intersex conditions, are seen in infants who are born with ambiguous or abnormal genitalia and may have indeterminate phenotypic sex. (medscape.com)
However, the paradigm of early gender assignment has been challenged by the results of clinical and basic science research, which show that gender identity development likely begins in utero and may not be the same as chromosomal or phenotypic sex. (medscape.com)
In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published proposed changes to the previously used nomenclature and definitions of disorders in which the development of chromosomal, gonadal, or phenotypic sex is atypical. (medscape.com)
Phenotypic sex determination begins with genetic sex and follows a logical cascade: chromosomal sex determines gonadal sex, which determines phenotypic sex. (medscape.com)

Rey R. Anti-Mullerian hormone in disorders of sex determination and differentiation. (medlineplus.gov)
It is, therefore, not clear whether haploinsufficiency for Xp genes in XO cells or the overdose of MSY and PAR genes in Xi(Y) cells is the cause of abnormal sex determination and differentiation in these animals. (veteriankey.com)

Because the condition causes overproduction of male hormones in the womb, girls who are affected tend to have genitals that look more male than female, though internal sex organs are normal. (banderasnews.com)
They have organizational and activational effects on the internal sex organs, genitals, and secondary sex characteristics (1) . (serendipstudio.org)

These data demonstrate that MAP3K4-dependent signalling events are required for normal expression of Sry during testis development, and create a novel entry point into the molecular and cellular mechanisms underlying sex determination in mice and disorders of sexual development in humans. (plos.org)
Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. (biomedcentral.com)
Disorders of sex development (DSDs), formerly termed intersex conditions, are among the most fascinating conditions encountered by the clinician. (medscape.com)
In this work, pathways governing mucus cell differentiation were investigated in lung tissues from patients with IPF and other chronic pulmonary disorders. (bmj.com)
Fat distribution can be influenced by the sex and age of the person with metabolic disorders. (gurze.com)

Some individuals with DSDs have genetic mosaicism and may have abnormal gonads (streak ovary, ovotestis, dysgenetic testis). (medscape.com)
Exposure of S. tropicalis to DE-71 induced liver necrosis and induced abnormal ovary development characterized by previtellogenic oocyte necrosis and arrested development of vitellogenic oocytes in females in a concentration-dependent manner. (datadryad.org)
In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9 , a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. (plos.org)
Recent studies have shown that UTROSCT displays a vast array of architectural patterns and features seen in sex cord tumors of the ovary including reiform pattern, glomeruloid and cystic structures, granulosa cell tumor-like areas with Call-Exner bodies (Czernobilsky, Irving). (surgpath4u.com)
Stromal tumors of the ovary include germ-cell tumors, sex-cord stromal tumors, and other more rare types. (medscape.com)

The Y-linked sex determining gene SRY regulates this process by initiating a pathway of gene and protein expression, including the expression of critical autosomal genes such as SOX9 . (plos.org)
β-catenin is involved in Wnt signaling pathway that regulates cellular differentiation and proliferation. (biomedcentral.com)
Activation of mTOR-dependent pathways regulates the specification and differentiation of CD4 + T effector cell subsets. (jci.org)
In this Review, we briefly outline the roles that follicle-stimulating hormone (FSH) and testosterone play in regulating spermatogenesis and describe our current understanding of how vitamin A regulates germ cell differentiation and how it may lead to the generation of both the cycle of the seminiferous epithelium and the spermatogenic wave. (jci.org)

De Crecchio was likely not aware that adrenal gland abnormalities could affect sex differentiation, a fact that was not well appreciated until the mid-1900s. (the-scientist.com)
There are therefore several pathways by which soy isoflavones might affect sex steroid synthesis and activity in vivo. (internetpdfarticles.com)

Uterine tumors which resembled sex cord tumors of the ovaries were reviewed by Clement and Scully in 1976 and divided in two groups. (surgpath4u.com)
Group 1 tumors were were endometrial stromal tumors with sex-cord like elements (ESTSCLE), and group 2 tumors were uterine tumor resembling ovarian sex cord tumor (UTROSCT). (surgpath4u.com)
This supports the prevailing opinion that UTROSCT are polyphenotypic uterine tumors with true sex cord differentiation, most likely arising from pluripotent mesechymal cells (Czernobilsky, Irving). (surgpath4u.com)
Czernobilsky B. Uterine tumors resembling ovarian sex cord tumors: an update. (surgpath4u.com)
Clinicopathologic features of 2 new cases of uterine tumors resembling ovarian sex cord tumors. (surgpath4u.com)
Irving JA, Carinelli S, Prat J. Uterine tumors resembling ovarian sex cord tumors are polyphenotypic neoplasms with true sex cord differentiation. (surgpath4u.com)
Uterine tumors resembling ovarian sex cord tumors (UTROSCT) lack the JAZF1-JJAZ1 translocation frequently seen in endometrial stromal tumors. (surgpath4u.com)

However, the possible differences in proliferation and differentiation capabilities among independently-derived human embryonic stem cells (hESCs) are not well known because of insufficient characterization. (biomedcentral.com)
Combining in vivo and in vitro assays, we show that the proliferation and differentiation capabilities of NSPCs decrease significantly in Ythdf2 −/− embryos. (biomedcentral.com)

The LWPES-ESPE terminology mainly reflects the chromosomal sex or the gonadal tissue associated with the disorder. (medscape.com)

A great proportion of 46,XY is caused by mutations in key transcription factors required for sex differentiation and androgen biosynthesis or action [ 2 ]. (biomedcentral.com)
These abnormalities have been attributed to the effects of excessive prenatal androgen levels on the sexual differentiation of the brain and later on behavior. (banderasnews.com)
In both cases, investigation of abnormal androgen production by the mother must be performed immediately after delivery. (health.am)

Additionally, there are two reports about infertile stallions having XXY sex chromosomes - an equine counterpart to human Kleinfelter syndrome (Kubien et al. (veteriankey.com)
Gender is determined by the sex chromosomes, XX produces a female, and XY produces a male. (serendipstudio.org)
Sexual differentiation is not driven by the sex chromosomes directly but by the hormones secreted by the gonads (3) . (serendipstudio.org)

Patients who present later in life have higher differentiation of genitalia. (orpha.net)

In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. (bvsalud.org)

In mammals, whether an individual develops as a male or female depends on its sex chromosome constitution: those with a Y chromosome become males because of the development of the embryonic gonad into a testis. (plos.org)
Testis-determining factor (TDF) is a 35-kilobase pair (kbp) sequence on the 11.3 subband of the Y chromosome, an area termed the sex-determining region of the Y chromosome (SRY). (medscape.com)
The Sex determining Region on the Y gene ( SRY ) is located on the short arm of the Y-chromosome and is the crucial switch that initiates testis determination and subsequent male development. (biomedcentral.com)
Normal male (46,XY) sex determination relies on the presence of the Y-chromosome, specifically on expression of SRY at the appropriate time and place during gonad development. (biomedcentral.com)
In 6 to 11% of cases a cell line with a normal or abnormal Y-chromosome is identified by standard cytogenetic techniques [ 4 ]. (biomedcentral.com)

Our comparative analysis provides further evidence for similarities and differences between three hESC lines in self-renewal, and spontaneous and directed differentiation. (biomedcentral.com)
These differences may be associated with inherited variation in the sex, stage, quality and genetic background of embryos used for hESC line derivation, and/or changes acquired during passaging in culture. (biomedcentral.com)
The Office of Research on Women's Health (ORWH) announces the availability of administrative supplements to support research highlighting the impact of sex/gender differences (or similarities) and/or sex and gender factors in human health and illness, including basic, preclinical, clinical and behavioral studies. (nih.gov)
The aim of the present work is to disentangle how sex differences in social plasticity can be explained by sex steroid hormone levels, gonadal state and/or morphometric characteristics. (bvsalud.org)
Sex differences at the genetic/epigenetic level in early development. (ubc.ca)

Neuregulin1α, which drives mucus cell differentiation in vitro, was expressed in normal airway submucosal glands and in lungs from patients with IPF. (bmj.com)
Finally, in vitro experiments and RNA sequencing (RNA-seq) were used to explore the possible pathway by which DRDs regulate Tfh cell differentiation. (bmj.com)
In vitro induction experiments showed that differentiation of naïve T cells into Tfh cells was accompanied by an increase in D1-like receptor expression. (bmj.com)
Transfection of MDS-MSCs with the miR-103-3p mimic improved osteogenic differentiation and decreased adipogenic differentiation in vitro, while inhibition of miR-103-3p showed the opposite results in NOR-MSCs. (techscience.com)

They conclude that the findings support a sexual-differentiation perspective involving prenatal androgens on the development of sexual orientation. (banderasnews.com)
For example in the congenital adrenal hyperplasia (CAH) disorder, the adrenal glands secrete abnormal amounts of androgens. (serendipstudio.org)
Sometimes surgical intervention is needed and the person will be given a synthetic hormone that suppresses the abnormal secretion of androgens (1) . (serendipstudio.org)

It would take another 40 years and an autopsy for the correct diagnosis to be made: congenital adrenal hyperplasia (CAH), a catchall term for genetic mutations that cause abnormal production of hormones by the adrenal glands, including hormones involved in genital development. (the-scientist.com)
2009). These effects include changes in the concentration and ratios of sex steroid hormones (Landry et al. (researchgate.net)
They are the primary female sex hormones. (absoluteastronomy.com)
Examples of steroids include the dietary fat cholesterol, the sex hormones estradiol and testosterone, and the anti-inflammatory drug dexamethasone.The core. (absoluteastronomy.com)
Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. (bvsalud.org)

A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. (orpha.net)

PCOS patients are at increased risk for various complications (e.g., insulin resistance and endometrial abnormalities) along with the typical clinical characteristics of polycystic ovaries, sparse ovulation, and abnormal hormone levels. (hindawi.com)

Mutations of the anti-mullerian hormone gene in patients with persistent mullerian duct syndrome: biosynthesis, secretion, and processing of the abnormal proteins and analysis using a three-dimensional model. (medlineplus.gov)

PRKX is implicated in granulocyte/macrophage lineage differentiation, renal cell epithelial migration, and tubular morphogenesis in the developing kidney. (umbc.edu)
In contrast, these epithelial-like (sex cord) elements comprise most of the tumor in UTROSCT. (surgpath4u.com)
Results In IPF, the bronchiolised and enlarged distal airspaces stained for SOX2 are consistent with epithelial differentiation characteristic of conducting airway epithelium. (bmj.com)
Conclusion Expression of SOX2 and MUC5B and lack of SPDEF in atypically differentiated cells of bronchiolised distal airspaces are consistent with abnormal programming of airway epithelial cells in IPF. (bmj.com)
Activation of abnormal respiratory epithelial differentiation programs may contribute to the expression of MUC5B and bronchiolisation of the distal lung, a salient feature of IPF. (bmj.com)

UTROSCT is predominantly composed of sex cord elements, whereas ESTSCLE is predominately an endometrial stromal tumor with a minor component of sex cord elements (Czernobilsky, Giordano). (surgpath4u.com)

Undifferentiated I3 cells grew significantly slower but their differentiation potential was greater than I6 and BG01V. (biomedcentral.com)
Results The plasma dopamine concentration in patients with SLE was significantly increased, and abnormal mRNA expression of DRDs was observed in both PBMCs and CD4 + T cells. (bmj.com)
Thus, the expression of miR-103-3p decreases in MDS BM plasma and MDS-MSCs, significantly impacting MDS-MSCs differentiation. (techscience.com)
However, induced astrocytes derived from both SAD and FAD patients exhibit a pronounced pathological phenotype, with a significantly less complex morphological appearance, overall atrophic profiles and abnormal localisation of key functional astroglial markers. (nature.com)

This will further orchestrate the formation of a functional testis, ultimately leading to the development of male primary and secondary sex characteristics [ 2 ]. (biomedcentral.com)

sex based comparisons of pathophysiology, biomarkers, gene expression, clinical presentation and prevention and treatment of diseases The proposed research must address at least one objective from Goals 1 through 3 of the NIH Strategic Plan for Women's Health Research . (nih.gov)

The presence of potassium channels was first identified in Drosophila melanogaster mutant flies that shook uncontrollably upon anesthesia due to problems in cellular repolarization that led to abnormal neuron and muscle electrophysiology. (wikipedia.org)
In agreement with the function of Ythdf2, delayed degradation of neuron differentiation-related m 6 A-containing mRNAs is seen in Ythdf2 −/− NSPCs. (biomedcentral.com)

Lines I3 and I6 possess normal XX and a normal XY karyotype while BG01V is a variant cell line with an abnormal karyotype derived from the karyotypically normal cell line BG01. (biomedcentral.com)

Other drugs, like danazol, which are also used in pregnancy, have been associated with abnormalities of sexual differentiation. (health.am)

Adequate comprehension of normal and abnormal sexual differentiation is essential to understanding DSDs. (medscape.com)

Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)

Hedgehog signaling activates a mammalian heterochronic gene regulatory network controlling differentiation timing across lineages. (cincinnatichildrens.org)
Sex determination in mammals is controlled by the presence or absence of the Y-linked gene SRY . (plos.org)
The AMH gene provides instructions for making a protein that is involved in male sex differentiation. (medlineplus.gov)
TPD1-like Gene as a Suitable Marker for Early Sex Determination in Date Palm (Phoenix dactylifera L. (mdpi.com)
Detection of mutations in this gene has confirmed the fundamental role of aromatase for the fetal-placental unit and for sexual differentiation of the female fetus. (health.am)

The association of outcome variables with asthma and BMI category were assessed using regression models adjusted for age, sex, smoking status and education. (cdc.gov)

95% homogeneous populations of human astrocytes within 30 days of differentiation from cortical neural progenitor cells (NPCs). (nature.com)

Presents with enlarged uterus and abnormal bleeding. (surgpath4u.com)

All cell lines differentiated into three embryonic germ lineages in embryoid bodies and into neural cell lineages when cultured in neural differentiation medium. (biomedcentral.com)
The pathogenesis of myelodysplastic syndrome (MDS) may be related to the abnormal expression of microRNAs (miRNAs), which could influence the differentiation capacity of mesenchymal stem cells (MSCs) towards adipogenic and osteogenic lineages. (techscience.com)

In the present study, a side-by-side comparison of the ability to maintain an undifferentiated state and to self-renew under standard conditions, the ability to spontaneously differentiate into cell types of three germ layers in embryonic bodies, and directed differentiation under neural differentiation-promoting conditions was made between three NIH registered hESC lines I3, I6 and BG01V. (biomedcentral.com)

Abnormal differentiation of the respiratory epithelium is a feature of idiopathic pulmonary fibrosis (IPF). (bmj.com)
In skeletal muscle, like brain a post-mitotic tissue, multiple mitochondrial DNA deletions as well as variable deficits in complex I of the mitochondrial respiratory chain (MRC), abnormal calcium handling, and reduced expression of PGC-1α have been described. (bmj.com)

It is also essential to understand how the inherited variation in the sex, stage, quality and genetic background of embryos, as well as environmental influences such as derivation methods and passage procedures can affect the ability of hES cell lines to self-renew and differentiate. (biomedcentral.com)

and the unique differentiation of haploid cells (spermiogenesis) (Figure 1 ). (jci.org)

A fraction of esophageal squamous cell carcinomas have abnormal nuclear accumulation of β-catenin accompanied with increased cyclin D1 expression. (biomedcentral.com)

The present study included patients diagnosed with PCOS and abnormal endometrial conditions who underwent CAM therapy independently or in combination with traditional western medicine. (hindawi.com)

Most of these conditions are associated with abnormal sex determination and/or sexual development (for review, see Villagomez et al. (veteriankey.com)

2020 ) 10,000 social brains: Sex differentiation in human brain anatomy. (neurotree.org)

and 3) the responses to directed neural differentiation was made between three NIH registered hES cell lines I3 (TE03), I6 (TE06) and BG01V. (biomedcentral.com)
Under the same neural differentiation-promoting conditions, the ability of each cell line to differentiate into neural progenitors varied. (biomedcentral.com)

Despite the requirement for a number of transcription factors and secreted signalling molecules in sex determination, intracellular signalling components functioning in this process have not been defined. (plos.org)

Synthesis:Androstenedione is the common precursor of male and female sex. (absoluteastronomy.com)
The development of a mammalian embryo into either female or male is primarily dependent on the sex chromosomal constitution, being XX and XY respectively. (biomedcentral.com)
Most of cm and occipito-frontal circumference 30.5 the reported cases were of female sex and cm. (who.int)
No significant specific craniofacial the male:female sex ratio is 7:22. (who.int)

Male sex and family history of colour vision defects were risk factors. (who.int)
Colour confusions are mainly between red, yellow and history for CVDs, male sex ( 14 , 15 ), and consanguineous green hues and between blue-greens and greys. (who.int)

Some present later with abnormal pubertal development. (orpha.net)

Methods Pathways governing airway mucus cell differentiation include SRY (sex determining region Y)-box 2 (SOX2), Notch, forkhead box A3(FOXA3)/SAM pointed domain containing ETS transcription factor (SPDEF), epidermal growth factor (EGF) and the EGF-related neuregulins NRG1α and NRG1β. (bmj.com)
Therefore, elucidating the mechanism of Tfh cell differentiation will contribute to SLE treatment. (bmj.com)
RNA-seq and RT-qPCR results indicate that D1-like receptors might promote Tfh cell differentiation through the Phosphatidylinositol3-kinase (PI3K)/protein kinase B (AKT)/Forkhead box protein O1 (FOXO1)/Kruppel-like factor 2 (Klf2) pathway. (bmj.com)
D1-like receptors may promote Tfh cell differentiation through the PI3K/AKT/FOXO1/Klf2 pathway. (bmj.com)
In addition, myoblast cell cultures from pre-manifest and manifest HD subjects showed impaired cell differentiation and HTT inclusions similar to those in brain. (bmj.com)

Previous studies have found that DRDs can regulate differentiation of immune cells. (bmj.com)

Here we report a role for the phylogenetically ancient mitogen-activated protein kinase (MAPK) signalling pathway in mouse sex determination. (plos.org)
Celiac disease (CD) is often undiagnosed and is caused in genetically predisposed individuals by abnormal intestinal permeability and abnormal immune response to gluten, a protein complex found in wheat, barley, spelt and rye. (scimedicahealth.com)

Anatomy24

Organisms8

Diseases5

Chemicals and Drugs20

Analytical, Diagnostic and Therapeutic Techniques and Equipment7

Psychiatry and Psychology3

Phenomena and Processes26

Disciplines and Occupations1

Information Science3

Health Care1

Reversal9

Determines the phenotypic sex2

Phenotypic4

Determination and differentiation2

Internal sex organs2

Disorders5

Ovary5

Regulates4

Affect sex2

Tumors7

Proliferation and differentiation capabilities2

Chromosomal sex1

Androgen3

Chromosomes3

Genitalia1

Atypical1

Chromosome5

Differences5

Vitro4

Androgens3

Hormones5

Ovarian1

Ovaries1

Secretion1

Epithelial5

Stromal1

Significantly4

Secondary sex characteris1

Pathophysiology1

Neuron2

Karyotype1

Abnormalities1

DSDs1

Testis1

Gene5

Regression1

Progenitor cells1

Uterus1

Lineages2

Embryonic1

Respiratory2

Embryos1

Haploid1

Squamous1

Endometrial1

Sexual development1

20201

Neural2

Transcription factors1

Female4

Male2

Development1

Cell5

Regulate1

Protein2