Mild phenotype androgens. Medical search. Frequent questions

Female pseudohermaphroditism due to placental aromatase deficiency, which has recently been reported by several investigators, illustrates the critical role of placental aromatization in protecting the fetus from excess androgen exposure. (health.am)
Adrenal androgens undergo peripheral conversion to testosterone and dihydrotestosterone, and steroid precursors produce specific findings depending upon the exact enzyme deficiency. (health.am)
Pathogenetic component of these signs is congenital disorder of steroidogenesis caused by 11β-hydroxylase deficiency and symptoms of androgen excess. (iitta.gov.ua)
In AGS, there are distinguished a phenotype and nonclassical forms of steroidogenesis enzyme deficiency. (iitta.gov.ua)
Underlying defect is the partial deficiency of androgen receptors (AR), causing partial androgen resistance, and not because of a lack of androgen synthesis. (mhmedical.com)
The clinical phenotype of CAH depends on the nature and severity of the enzyme deficiency. (medscape.com)
To date over 20 subjects have been reported with aromatase deficiency which may manifest during fetal life with maternal virilization and virilization of the external genitalia of a female fetus due to low aromatase activity in the steroid metabolizing fetal-placental unit and thus high androgen levels. (unibe.ch)
R192H is a novel CYP19A1 mutation which causes a severe phenotype of aromatase deficiency in a 46,XX newborn and maybe hypospadias and cryptorchidism in a 46,XY, but no maternal androgen excess during pregnancy. (unibe.ch)
In conclusion, androgen deficiency more than chromosomal abnormality is the major pathogenic factor of sexual dysfunction in KS. (mensfe.net)

One of the most disease-specific endocrine indices of SBMA is the androgen sensitivity index (luteinizing hormone / testosterone) which is elevated in 64% of cases, indicating both endocrine and exocrine testicular dysfunction. (wikipedia.org)
In the absence of aromatase, androgens cannot be converted to estrone, estradiol or estriol, and large quantities of androstenedione and testosterone are transferred to the maternal and fetal circulation, resulting in masculinization of the urogenital sinus and external genitalia of the female fetus. (health.am)
We hypothesized that KS physical traits (phenotype) are associated with adverse psychosocial health measures and that testosterone levels are associated with adverse psychosocial health. (qxmd.com)
The normal chromosomal study (46,XY) and normal testosterone conversion enzyme study (particularly 5-reductase level) exclude other causes of androgen resistance. (mhmedical.com)
The cause of acne conglobata is unknown but since it appears mainly in men, it is believed to be caused high levels of androgens such as testosterone. (progressivehealth.com)

The phenotype is quite variable as a consequence of the partial sensitivity of the androgen receptors. (mhmedical.com)
red maca reduced prostate size in Benign Prostatic Hyperplasia (BPH) by restoring expression of ERβ without affecting androgen receptors and ERα. (themacateam.com)

Loss of AR function in SBMA patients results in partial androgen insensitivity, including gynecomastia, erectile dysfunction, decreased libido, infertility and testicular atrophy. (wikipedia.org)
Patients with complete androgen insensitivity syndrome do not show symptoms of SBMA, indicating neuromuscular symptoms are not caused by a loss of AR function. (wikipedia.org)
1 This newer classification incorporates a wide range of conditions, including congenital adrenal hyperplasia ( CAH ), ovotesticular DSD , androgen insensitivity syndrome ( AIS ). (pediatricurologybook.com)

Postnatal anti-androgen (10.3 ± 1.9), but not insulin sensitizer (5.0 ± 0.9), treatment prevented this decrease. (biomedcentral.com)
The finding that final follicle growth was fully rescued by postnatal anti-androgen treatment and intrafollicular steroid milieu partially by insulin sensitizer treatment suggest that both androgenic and insulin pathway disruptions contribute to the compromised follicular phenotype of prenatal T-treated females. (biomedcentral.com)

Management of excessive androgens in the female fetus is somewhat difficult and will differ, for example, if there is a family history of female pseudohermaphroditism or if androgen excess is suspected from ultrasonography. (health.am)
CAH is the most frequent cause of androgen excess and ambiguous genitalia in the female newborn and the various forms of CAH are due to defects in the biosynthesis of cortisol, with the subsequent excessive ACTH production leading to an accumulation of adrenal androgens and steroid precursors. (health.am)
Excess androgens can be from either an exogenous or an endogenous source. (medscape.com)
Therefore, the evaluation of androgen excess can focus on disorders of these 2 glands. (medscape.com)
During infancy, girls often have ovarian cysts and thereafter fail to enter puberty showing signs of variable degree of androgen excess. (unibe.ch)
46,XY and 46,XX DSDs can be further subdivided into the subclasses of disorders of gonadal development, disorders of androgen biosynthesis and excess, and unclassified. (e-apem.org)

Untreated maternal virilizing CAH is another potential cause, though androgen-secreting adrenal tumor in the mother is rare. (health.am)
When a history of rapid severe hirsutism or other signs of virilization are obtained, an androgen-secreting tumor is a possibility. (medscape.com)
Patients with PSMA-positive tumor phenotypes were selected by molecular imaging. (snmjournals.org)
15) Ovarian vein sampling for androgen was essential in locating this patient's microscopic tumor. (comparewords.com)

The degree to which these clinical factors are present suggests the level of androgen overproduction and, thus, helps to determine the degree of concern for the presence of an underlying disease. (medscape.com)
Clinical features typically include severe psychomotor developmental delay, cardiac disease, dysmorphic features, postnatal growth failure, and hypotonia, although there is significant variability in the severity of the phenotype among affected individuals. (hindawi.com)
In the rare disease erythropoietic protoporphyria , haploinsufficiency for ferrochelatase ( FECH ) contributes to the clinical phenotype but is not the only reason for the disease expression. (dorak.info)
Positive Trial of Methotrexate in Hand OA Has Modest Results A randomized controlled trial of methotrexate in inflammatory hand OA demonstrated clinical benefit, suggesting a potential role for immunosuppression in a subset of patients with an inflammatory OA phenotype. (medscape.com)
There are two major forms recognized based on clinical and molecular presentation: Myotonic dystrophy type I (DM1), known as Steinert disease, and myotonic dystrophy type II (DM2), or proximal myotonic myopathy which is a milder variety of DMI. (rxharun.com)

We study the more severe reproductive and metabolic PCOS phenotype, which is dominated by features of hyperandrogenism and associated with insulin resistance, android type obesity, mild hypertension, early endothelial dysfunction, metabolic syndrome, and atherosclerosis. (jbpierce.org)

Identifying facial phenotypes of genetic disorders using deep learning. (cdc.gov)
Disorders of androgen on to cally could not be made in which sperm can easily develop into the corporal smooth muscle tone: Evidence for a definition of sadism, oxford university. (ben.edu)
Until now, over 50 mutations were described in different phenotypes of XY disorders of sex development (DSD) such as complete gonadal dysgenesis, severe and mild partial gonadal dysgenesis, hypospadias, infertility and bilateral anorchia. (eurospe.org)

In most cases, both types of diseases occur in persons of both sexes with different course - from mild to severe forms of the disease. (iitta.gov.ua)
Depending on the severity of the breakout, acne can be classified as mild , moderate or severe. (progressivehealth.com)
Although asymptomatic or mild in most cases, COVID-19 may cause severe illness with increased mortality in high-risk patients [ 3 ]. (beds.ac.uk)

P450 aromatase (CYP19A1) is essential for the biosynthesis of estrogens from androgen precursors. (unibe.ch)

Although the mother did not virilize during pregnancy, the baby was found to have a complex genital anomaly at birth (enlarged genital tubercle, fusion of labioscrotal folds) with elevated androgens at birth, normalizing thereafter. (unibe.ch)

The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the severity of the genetic deletion or mutation. (medscape.com)
Introduction: Congenital Adrenal Hyperplasia (CAH) results from enzymatic defects caused by autossomal recessive hereditary mutations characterized by deficient cortisol synthesis and, in most cases, increased androgen synthesis. (endocrine-abstracts.org)

A discrepancy between marked virilization in the mother and a minimal androgen effect in female offspring indicates placental aromatase activity, which converts androgens to estrogens, or androgen metabolism, which thus becomes less active. (health.am)
A defect in the placental conversion of androgens to estrogens causes virilization in female offspring. (health.am)

A milder PCOS-like phenotype with reduced fecundity was found in sheep treated prenatally from days 60-90 of gestation (T60-90), where only 40 % of such prenatal T-treated females became pregnant [ 19 ]. (biomedcentral.com)
People with androgen-releasing tumors, women with PCOS (polycystic ovarian syndrome) or those with Cushing's syndrome have a very high risk of developing acne conglobata. (progressivehealth.com)
This type falls into the category of phenotype-D, in which PCOS without excessive male hormones leads to increased gut inflammation . (healmeright.com)

Boys diagnosed prenatally had a milder phenotype compared with those diagnosed postnatally. (qxmd.com)

A syndrome characterized by hypogonadism as a result of a defect in androgen receptor. (mhmedical.com)

ESMO 2023 Enzalutamide Ups Mets-Free Survival, QoL in Prostate Cancer Enzalutamide plus androgen deprivation therapy or alone can extend metastasis-free survival and maintain quality of life in men with prostate cancer facing a high-risk for biochemical recurrence. (medscape.com)

Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. (qxmd.com)
To characterize associations among psychosocial well-being, physical phenotype, and sex hormones in a sample of youth with Klinefelter syndrome (KS). (qxmd.com)
Since the initial report, this description of Ogden syndrome has broadened to include a variety of phenotypes categorized as NAA10 -related syndrome [ 2 ]. (hindawi.com)
It closely resonates with the Type-A phenotype in which insulin resistance, high blood sugar, and obesity are very common and the risks of metabolic syndrome are higher than the other phenotypes. (healmeright.com)
I know it is of the DiGeorge syndrome - a double blind it en-masse resulting in. (aetechnologies.com)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)

Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function. (wikipedia.org)
Congenital hypothyroidism (CH) patients with chromosomal deletions encompassing the TTF1 locus and point mutations in the TTF1 gene confirmed its implication in the phenotype: CH with a thyroid gland in place, associated with respiratory distress syndro. (eurospe.org)

Excessive androgen production can be traced back to the mother, placenta or the fetal adrenal gland. (health.am)
Presents clinically in adolescence because of failure of the adrenal gland and testes to produce androgens. (mhmedical.com)

Using this milder phenotype, the aim of this study was to understand the relative postnatal contributions of androgen and insulin in mediating the prenatal T induced disruptions in ovarian follicular dynamics. (biomedcentral.com)

Any maternal source of elevated androgens can induce virilization in the female fetus. (health.am)

However, sometimes the presentation is insidious with nonspecific symptoms and mild hypercalcemia. (endocrine-abstracts.org)

Clinically, all mutation-positive patients presented a typical PD phenotype and a good response to levodopa. (flt-3inhibitors.com)
12) The effects of supervised mild aerobic exercise at the work load of the blood lactate threshold for 10 weeks on serum lipids and apolipoproteins were studied in 24 patients with essential hypertension. (comparewords.com)

Background: Treatment of CAH in children is compromised by the pharmacokinetic of available hydrocortisone (HC) preparations resulting in un-physiological early morning rise of ACTH followed by elevated androgens. (eurospe.org)

Interestingly, her older brother presented with mild hypospadias and bilateral cryptorchidism and was found to carry the same homozygous CYP19A1 mutation. (unibe.ch)

Clinically, X-ALD can present a wide spectrum of phenotypes, being the most frequent Adrenomyeloneuropathy, with ataxia, spastic paraparesis, sexual and sphincter dysfunction. (endocrine-abstracts.org)

Because the development of pubic hair depends on adrenal androgens, early development points toward CAH. (medscape.com)
[ 4 ] This task requires that terminal hair, which depends on androgen, be differentiated from vellus hair, which is androgen-independent. (medscape.com)

cultured fibroblast from genital skin show reduced levels of androgen receptor present with decreased cytoplasmic dihydrotestosterone binding capacity. (mhmedical.com)

In transgender women, estrogen treatment with androgen suppression results in similar cardiometabolic changes, in addition to changes in insulin resistance and risk of thrombosis. (jbpierce.org)

Activating prepubertal GnRH neuron activity had no effect on adult firing rate and did not rescue adult reproductive phenotypes in mice exposed to androgens before birth. (sfn.org)
Suppression of prepubertal GnRH neuron activity, via the 4Di DREADD, resulted in a mild lengthening of reproductive cycles and a significant increase in adult GnRH neuron firing rate. (sfn.org)
A seminal study done on the red phenotype of maca was published in the "Journal Reproductive Biology and Endocrinology. (themacateam.com)

Areas such as the axilla and pubis are not included because terminal hair grows in these places at normal androgen levels in women. (medscape.com)
The total score correlates roughly with the elevation of androgen levels. (medscape.com)

Chondrocyte phenotype and cell survival are regulated by culture conditions and by specific cytokines buy Anavar in Canada through the expression of sox-9 transcription factor. (dashofeast.com)

Using an investigator-developed Klinefelter Phenotype Index Scale, the number of KS physical traits ranged from 1-13 (mean 5.1 ± 1.9). (qxmd.com)
In the final stage, termed sex differentiation, the hormonal patterns in turn shape the individual phenotype, usually as an expression of male or female traits [ 4 ]. (e-apem.org)

Mild Myotonic Dystrophy - The mild form of DM1 or the oligosymptomatic form is associated with mild weakness, myotonia, and cataracts that begin between 20 to 70 years (typically after age 40 years). (rxharun.com)

Urgent Need to Improve Early Detection of MCI in Primary Care A US study has revealed major gaps in the detection of mild cognitive impairment in primary care, with the vast majority of older adults with the condition undiagnosed. (medscape.com)
Prevalence of Cardiovascular Disease and Osteoporosis During Androgen Deprivation Therapy Prescription Discordant to EAU Guidelines: Results From a Multicenter, Cross-sectional Analysis From the CHOsIng Treatment for Prostate canCEr (CHOICE) Study Morgia G et al Urology 2016 Oct;96:165-170. (lycoprozen.com)
9 ] And a study from "International Journal of Biomedical Science" in September 2015 concluded: "The Red Maca phenotype showed the highest concentrations of Glucosinolates as compared to the Black and Yellow Maca. (themacateam.com)

however, surreptitious androgen use has been reported in female athletes, especially those at a high level of competition. (medscape.com)

In its mildest form, the man is infertile but otherwise normal. (mhmedical.com)
Whereas, Type D is considered the mildest form. (healmeright.com)
Barrett (eds) tion in the ischemic tissue kinase as a male pediatric endocrine society s negative health behaviours, troversial and often this (scd), in whom implantation tube kinking, reservoir leakage, and pump it to begin with a mild form of a favorite restaurant. (ben.edu)
DM2 is a milder form than classic DM1. (rxharun.com)

The Klinefelter Phenotype Index Scale may be a useful tool to characterize KS features in boys. (qxmd.com)

Normally, acute hematotoxicity was mild. (snmjournals.org)

The classical phenotype of KS is widely recognized, but many affected subjects present only very mild signs. (mensfe.net)

however, overtly ambiguous genitalia may occur in one in 4,500 live births, and complete XX or XY sex reversal with unequivocal male or female phenotype at birth is estimated to exist in one in 20,000 live births [ 2 ]. (e-apem.org)

of 42 non-essential genes that were tested, 14 show some discernible effect on phenotype and the remaining 28 have no overt function. (comparewords.com)

T treatment from days 60-90 of gestation produces a milder phenotype, albeit with reduced fecundity. (biomedcentral.com)

Dysarthria is common, with hypernasality due to incomplete lifting of soft palate, but typically remains relatively mild and seldom leads to the loss of oral communication. (wikipedia.org)

In this approach, hair growth is judged in each of 11 androgen-sensitive areas. (medscape.com)

Anatomy24

Organisms16

Diseases26

Chemicals and Drugs87

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Psychiatry and Psychology1

Phenomena and Processes71

Disciplines and Occupations1

Information Science3

Health Care2

Deficiency9

Testosterone5

Receptors2

Insensitivity3

Anti-androgen2

Excess6

Tumor4

Clinical5

Hyperandrogenism1

Disorders3

Severe3

Precursors1

Labioscrotal folds1

Synthesis2

Estrogens2

PCOS3

Prenatally1

Hypogonadism1

Enzalutamide1

Syndrome6

Gene2

Adrenal gland2

Ovarian1

Virilization1

Symptoms1

Patients2

ACTH1

Hypospadias1

Frequent1

Depends2

Dihydrotestosterone1

Insulin1

Reproductive3

Levels2

Survival1

Traits2

Cataracts1

Study3

High1

Form4

Features1

Acute1

Present1

Birth1

Effect1

Treatment1

Typically1

Growth1