Disorder of gonadal development. Medical search. Frequent questions

Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in humans. (wikipedia.org)
One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. (wikipedia.org)
Gonadal dysgenesis arises from a difference in signalling in this tightly regulated process during early foetal development. (wikipedia.org)
Manifestations of gonadal dysgenesis are dependent on the aetiology and severity of the underlying causes. (wikipedia.org)
Pure gonadal dysgenesis 46,XX also known as XX gonadal dysgenesis Pure gonadal dysgenesis 46,XY also known as XY gonadal dysgenesis Mixed gonadal dysgenesis also known as partial gonadal dysgenesis, and 45,X/46,XY mosaicism Turner syndrome also known as 45,X or 45,X0 Endocrine disruptions 46,XX gonadal dysgenesis is characteristic of female hypogonadism with a karyotype of 46,XX. (wikipedia.org)
46,XX gonadal dysgenesis can manifest from a variety of causes. (wikipedia.org)
Interruption during ovarian development in embryogenesis can cause 46,XX gonadal dysgenesis with cases of changes in the FSH receptor and mutations in steroidogenic acute regulatory protein (StAR protein) which regulates steroid hormone production. (wikipedia.org)
46,XY gonadal dysgenesis is characteristic of male hypogonadism with karyotype 46,XY. (wikipedia.org)
The aetiology of 46,XY gonadal dysgenesis can be caused by mutations in the genes involved in testis development such as SRY, SOX9, WT1, SF1, and DHH. (wikipedia.org)
Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long-term outcomes. (medscape.com)
Women with a genetic condition called 46, XY gonadal dysgenesis have one X and one Y chromosome, but their ovaries do not develop normally. (nih.gov)
3. Undetectable anti-Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis. (nih.gov)
6. Gonadoblastoma-Associated Mixed Gonadal Germ Cell Tumor with Dysgerminoma and Hepatoid Yolk Sac Tumor Components in 46XY Gonadal Dysgenesis. (nih.gov)
13. Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature. (nih.gov)
CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. (figshare.com)
Gonadal dysgenesis and congenital reproductive tract anomalies cause primary amenorrhea. (msdmanuals.com)
The latter include partial and/or complete androgen insensitivity, complete and partial gonadal dysgenesis, and disorders of androgen hormone synthesis (e.g. 5α-reductase deficiency, 17β-hydroxysteroid-dehydrogenase deficiency). (biomedcentral.com)
11 ] Gonadal dysgenesis, as well as the presence of Y-chromosome material in an abdominal gonad, also increases the risk of developing a gonadal GCT, especially gonadoblastoma. (kaiserpermanente.org)
Gonadal Dysgenesis, 46,XY" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (sdsu.edu)
An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination. (sdsu.edu)
This graph shows the total number of publications written about "Gonadal Dysgenesis, 46,XY" by people in this website by year, and whether "Gonadal Dysgenesis, 46,XY" was a major or minor topic of these publications. (sdsu.edu)
Below are the most recent publications written about "Gonadal Dysgenesis, 46,XY" by people in Profiles. (sdsu.edu)
CONCLUSIONS: We suggest that haploinsufficiency of DMRT1 is sufficient for both XY gonadal dysgenesis and XY ovotesticular DSD. (uni-luebeck.de)
Recently, a series of recurrent missense variants in the RNA-helicase DHX37 have been reported associated with either 46,XY gonadal dysgenesis, 46,XY testicular regression syndrome (TRS), or anorchia. (qxmd.com)
It is associated with disorders of sex development (DSD), most commonly Turner mosaic syndrome with Y chromosome material (TMSY), and 46XY gonadal dysgenesis (GD). (eurospe.org)

Gonadal development is a process, which is primarily controlled genetically by the chromosomal sex (XX or XY), which directs the formation of the gonad (ovary or testis). (wikipedia.org)
The main goal was the description of clinical outcomes and the health-care situation of individuals with DSD using a broad generic definition of DSD including all conditions with a mismatch of chromosomal, gonadal and phenotypical sex. (biomedcentral.com)
DSD are defined as congenital conditions with a mismatch of chromosomal, gonadal and phenotypical sex. (biomedcentral.com)
Disorders of sex development (DSD) are a group of complex conditions that can affect chromosomal, gonadal, and/or phenotypical sex with a highly variable fertility potential amongst affected individuals. (mivf.com.au)
Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. (eurospe.org)
This group suggested a new term " Disorders of Sex Development " (DSD) to define congenital conditions in which anatomical, chromosomal or gonadal sex is atypical. (edu.au)

In all documented biopsied cases, there is a significant decline in germ cell development and an increase in tubular sclerosis by puberty. (medscape.com)
Recently, the Section initiated a multidisciplinary collaborative study investigating puberty-related endocrine and metabolic events in normal brain development. (nih.gov)
Polycystic Ovary Syndrome: A Brain Disorder Characterized by Eating Problems Originating during Puberty and Adolescence. (nih.gov)
We are talking about a complex development from the embryo all the way through puberty. (stackexchange.com)
Normal puberty is a time of life and a process of development that results in full adult maturity of growth, sexual development, and psychosocial achievement. (nih.gov)
For females, the peak in young children is present only for extragonadal tumors, with rates increasing after the age of puberty for both extragonadal and gonadal sites. (kaiserpermanente.org)
Puberty is the process of development of adult secondary sexual characteristics. (cam.ac.uk)
Disorders of puberty can be classified into early (precocious) and late (delayed) puberty. (cam.ac.uk)
Early (precocious) puberty can be secondary to either activation of the hypothalamic-pituitary-gonadal axis (gonadotrophin-dependent, or central) or altered regulation of sex hormone production in the gonads, adrenals or other tissues (gonadotrophin-independent or peripheral). (cam.ac.uk)
et al Recent decline in age at breast development: the Copenhagen Puberty Study. (thieme-connect.de)
Disorders of puberty can profoundly impact physical and psychosocial well-being. (aafp.org)
Among patients with true precocious puberty, or full activation of the hypothalamic-pituitary-gonadal axis, most girls have an idiopathic etiology, whereas it is commonly due to identifiable pathology on imaging in boys. (aafp.org)
Delayed puberty is the absence of breast development in girls by 13 years of age and absence of testicular growth to at least 4 mL in volume or 2.5 cm in length in boys by 14 years of age. (aafp.org)
Girls without breast development by 13 years of age should be evaluated for delayed puberty, and girls without menarche by 15 years of age should be evaluated for primary amenorrhea. (aafp.org)
The physical changes of puberty are a result of gonadal sex hormone production, the start of which (gonadarche) indicates pubertal onset. (aafp.org)

8. Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads. (nih.gov)
9. 45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue. (nih.gov)
General gonadal histology was assessed on H&E stained sections from each sample by two double blinded specialists and the findings were classified as testicular, ovarian or ovotesticular parenchyma, undifferentiated gonadal tissue (UGT) and gonadoblastoma (GB). (eurospe.org)

They can lead to the epigenetic dysregulation of the hypothalamic-pituitary-gonadal (HPG) axis, thereby impacting on ovarian folliculogenesis. (nih.gov)
Gonadarche is triggered by the pulsatile release of gonadotropin-releasing hormone, which activates the hypothalamic-pituitary-gonadal (HPG) axis. (aafp.org)

Josso N, Audi L, Shaw G. Regional variations in the management of testicular or ovotesticular disorders of sex development. (medscape.com)
Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. (nih.gov)
Disorder of testicular development: Management is often by a multidisciplinary team (medical geneticist, endocrinologist, urologist, and psychologist). (nih.gov)
For ongoing issues with disorder of testicular development as per treating multidisciplinary team and for CAKUT as per treating nephrologist and/or urologist. (nih.gov)
Patients with ovotesticular disorder of sexual development are individuals who have both ovarian and testicular tissue. (medscape.com)
Müllerian duct structures typically develop on the gonadal side not containing testicular tissue. (medscape.com)
Wolffian duct structures tend to be observed on the gonadal side containing functioning testicular tissue. (medscape.com)
Evaluation of the prevalence of maternal glucose metabolism disorders during pregnancy in newborn boys having normal testicular descent or congenital cryptorchidism. (researchgate.net)
During mice fetal testis development, WT1 regulates early sex determi- nation, embryonic testicular cord assembly and maintenance [17,18], peritubular myoid cells, and fetal Leydig cells differentiation [19]. (omipalisibinhibitor.com)

The differential diagnosis includes syndromes of low gonadotropin production, usually constitutional delay of growth and maturation associated with chronic disease, but also an array of gene-mediated disorders, and syndromes of primary gonadal dysfunction with hypergonadotropic hypogonadism, including Turner and Klinefelter syndromes, and a group of acquired and genetic abnormalities. (nih.gov)
Neurogenic pain disorders are conditions resulting from functional abnormalities within the nervous system. (pocketdentistry.com)

The male gonad is dependent on SRY and the signalling pathways initiated to several other genes to facilitate testis development. (wikipedia.org)
Chapter reproductive psychiatry and sexuality disorders of testis development xy gonadal chimera. (flotamagdalena.com)

In embryogenesis, the development of the male gonads is primarily controlled by the testis determining factor located on the sex-determining region of the Y chromosome (SRY). (wikipedia.org)
Ovotesticular disorder of sexual development, which was previously termed "intersex," describes disorders in which there is a discrepancy between a person's phenotype, genetic material, and gonads. (medscape.com)
Such gonads are found exclusively in people with ovotesticular disorder of sexual development (OT-DSD), formerly known as true hermaphroditism. (medscape.com)
The Charité - Universitätsmedizin Berlin is now commencing a new EU research project, dsd-LIFE, to improve clinical care in individuals suffering from hormonal disorders of the gonads and adrenals. (news-medical.net)
This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. (sdsu.edu)

De Jesus Escano MR, Mejia Sang ME, Reyes-Mugica M, Colaco M, Fox J. Ovotesticular Disorder of Sex Development: Approach and Management of an Index Case in the Dominican Republic. (medscape.com)
Özdemir M, Kavak RP, Yalcinkaya I, Guresci K. Ovotesticular disorder of sex development: an unusual presentation. (medscape.com)
Successful in vitro fertilization pregnancy and delivery in an infertile patient with ovotesticular disorder of sex development: a case report. (medscape.com)
Long-term followup of a large cohort of patients with ovotesticular disorder of sex development. (medscape.com)
Long-term outcome of ovotesticular disorder of sex development: a single center experience. (medscape.com)
Selver Eklioglu B, Atabek ME, Akyurek N, Ari Yuca S, Piskin M. The 46XX Ovotesticular Disorders of Sexual Development with Dismorphic Features. (medscape.com)
2. Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development. (nih.gov)
11. Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development. (nih.gov)
18. Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? (nih.gov)
Online at https://www.cureus.com/articles/70052-ovotesticular-disorder-of-sex-development-approach-and-management-of-an-index-case-in-the-dominican-republic]. (medscape.com)
Many patients with ovotesticular disorder of sexual development have a uterus. (medscape.com)

1. Gonadal tumor development in 46,XX disorders of gonadal development. (nih.gov)
15. Tumor risk in disorders of sex development (DSD). (nih.gov)
Note: This chapter on WT1 disorder excludes WAGR syndrome ( W ilms tumor- a niridia- g enital anomalies- r etardation), caused by a contiguous gene deletion of PAX6 and WT1 (see PAX6- Related Aniridia ). (nih.gov)
Gonadoblastoma is a rare gonadal tumor consisting of a mixture of germ cells and sex-cord stromal derivatives resembling immature granulosa and Sertoli cells. (kaiserpermanente.org)
The Wilms' tumor suppressor gene WT1 encodes a nuclear transcription factor [11,12], which regulates the development of organs, tissues and activates or represses numerous target genes resulting in different biological effects such as growth, differenti- ation, and apoptosis [13,14]. (omipalisibinhibitor.com)

Based on the updated classification and new nomenclature recommendations put forth by the 2006 International Intersex Consensus Conference 1 , the Disorders of Sex Development (previously Sex Differentiation Disorders) trees and descriptors were revised and updated. (nih.gov)
The terms differences (or sometimes disorders) of sex development (DSD) and Intersex refer to reproductive development that varies from binary definitions of physical sex. (nih.gov)
5-alpha-reductase deficiency is an autosomal recessive intersex or "disorder of sex development" (DSD) condition caused by a loss-of-function mutation in a gene on chromosome 2. (lecturio.com)

Thyrotropin Deficiency Abnormally low levels of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis. (nih.gov)
Adipose tissue plays a crucial role by mediating central activation of the hypothalamus-pituitary-gonadal axis through leptin and kisspeptin, as well as by peripheral effects through conversion of androgens to estrogen. (thieme-connect.de)
Although weight restoration is the mainstay of treatment for amenorrhea in the setting of anorexia nervosa, there has been some investigation into pharmacologic intervention targeted at the disrupted hypothalamic-gonadal axis. (biomedcentral.com)
Dysfunction in the hypothalamic-pituitary-adrenal axis has been associated with depressive and anxiety disorders. (frontiersin.org)

Alterations of gonadal steroids and adrenal androgens are implicated in the observed sex differences in the prevalence, course and treatment response characteristics of affective disorders. (nih.gov)
Little is known about the risk for these disorders among individuals with congenital adrenal hyperplasia (CAH), a form of primary adrenal insufficiency. (frontiersin.org)
Background: Measurement of steroid metabolite excretion in urine by gas chromatography-mass spectrometry (GC-MS) provides a comprehensive profile of an individual's adrenal and gonadal steroid production. (rug.nl)
It has long been acknowledged as a useful tool for diagnosis of inborn disorders of steroidogenesis leading to congenital adrenal hyperplasia and disorders of sex development. (rug.nl)

Verkauskas G, Jaubert F, Lortat-Jacob S, Malan V, Thibaud E, Nihoul-Fékété C. The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery. (medscape.com)

The absence of the steroid hormones commonly associated with males drives Müllerian duct development and promotes the development of female genitalia, if anti-Müllerian hormone is suppressed or the body is insensitive, persistent Müllerian duct syndrome occurs when the individual has partial female reproductive, and partial male reproductive organs. (wikipedia.org)
Androgens are naturally occurring steroid hormones responsible for development and maintenance of the male sex characteristics, including penile, scrotal, and clitoral growth, development of sexual hair, deepening of the voice, and musculoskeletal growth. (lecturio.com)

Historically one of the first breakthroughs was the determination by Jost and colleagues ( Jost, 1953 , 1961 ) that the fetal gonad, responding to its genetic endowment, elaborates substances that can influence the development of the internal and external genitalia. (hawaii.edu)
The diagnosis of a WT1 disorder is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in WT1 identified by molecular genetic testing . (nih.gov)
It is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk relatives of an individual with a WT1 disorder in order to identify as early as possible those who would benefit from prompt initiation of treatment and surveillance. (nih.gov)
DSD are a heterogeneous group of various genetic disorders of sex determination or sex differentiation, all of which are rare conditions. (biomedcentral.com)
This section discusses the genetic causes of the most common variations in sex development and their biological implications, focusing on those that are obvious at birth. (edu.au)

C3009 Endocrine System Disorder C118464 Pediatric Adverse Events Terminology C C98810 Ambiguous Genitalia Atypical Genitalia A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia. (nih.gov)

Juvenile hemochromatosis ( HFE2 ) is a rare autosomal recessive disorder associated with a gene mapped to the long arm of chromosome 1. (cdc.gov)
Around the 6 th week of the unborn baby's development, a gene on the Y chromosome of a developing boy tells the fetal tissue that will form the sex organs to become the testes. (chkd.org)

12. [Pathologic features on gonadal changes of sexual developmental disorders in children]. (nih.gov)
Research has established the broad mammalian developmental plan that genes on the sex chromosomes influence gonad development which determines gonadal hormone production (or its absence) leading to modification of the genitalia and simultaneously biasing the nervous system to organize adult sexual behavior. (hawaii.edu)
These now-classic papers, along with many others, established the broad developmental plan that, at least for mammals, the following pathway occurs: genes on the sex chromosomes influence gonad development which determines gonadal hormone production (or its absence) leading to modification of the internal and external genitalia and simultaneously biasing the nervous system to organize adult sexual behavior (see e.g. (hawaii.edu)
Studies of these disorders, utilizing neurobiological and behavioral techniques, can be expected to yield new insights into the localization of cognitive function and the developmental course of the syndromic cognitive profiles. (nih.gov)
In a parallel and possibly related investigation of autism, a developmental disorder characterized by a profound deficiency in social knowledge, affect, and communication, a new finding demonstrates severe impairment in ability to shift attention, a necessary developmental precursor to social communication. (nih.gov)
Careful human phenotyping of such patients and families has expanded our understanding of this spectrum of disorders to include oligo-digenic inheritance, as well as reversibility of the condition, and has provided insight into developmental pathways involved in the ontogeny of GnRH neurons. (nih.gov)

5. Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas. (nih.gov)

This can include any congenital variation in sex chromosomes, gonadal development, sex hormone synthesis or function, and the appearance of external genitalia. (nih.gov)
Klinefelter syndrome is the most common disorder of the male sex chromosomes, yet is rarely diagnosed in children. (news-medical.net)

17. [Gonadal neoplastic related lesions in children with disorders of sexual development: a clinicopathological study of twelve cases]. (nih.gov)
In this essay we probe those areas of sexual development that are neither differentiated by hormones nor activated by them. (hawaii.edu)
It is the purpose of this discourse to discuss aspects of sexual development and to offer insight as to why understanding such processes is much more complicated than initially assumed. (hawaii.edu)
How do disorders of sexual development happen? (chkd.org)
In our latest podcast, Specialist nurse and educator Kate Davies asks clinical psychologist Julie Alderson about the optimal integration of psychology into a differences in sexual development clinical service. (medwirenews.com)
Disorders of sexual development in a cultural context. (arthypospadias.com)
These groups display a multitude of reproductive strategies, and whereas many attributes are conserved within groups and even across vertebrates, several aspects of sexual development show considerable variation. (qxmd.com)

Pour les anomalies de développement des membres, nous travaillons depuis 20 ans avec l'équipe du Laboratoire de Biochimie et Biologie moléculaire du CHU de Lille (Dr F Escande) et avons mis en place une collaboration étroite avec l'équipe de radiologie osseuse de l'enfant dirigée par le Pr N Boutry. (plemara.fr)

Alterations in the development of this neuroendocrine system lead to anomalous or absent GnRH secretion, resulting in heterogeneous reproductive disorders such as congenital hypogonadotropic hypogonadism (CHH) or other conditions characterized by infertility or subfertility. (karger.com)
Evidence is mounting that loss of menstrual regularity, especially if related to hypogonadotropic hypogonadism, is a risk factor for later development of osteoporosis and hip fractures. (medscape.com)

However, absence of menarche and of any breast development by age 13 should prompt evaluation for primary amenorrhea. (msdmanuals.com)
Primary or secondary amenorrhea may be due to endocrinologic disorders. (msdmanuals.com)
Other than pregnancy, constitutional delay, anovulation, and chronic illness, most other disorders that cause amenorrhea may require referral to a subspecialist for treatment. (medscape.com)
The development of amenorrhea is most strongly correlated to loss of body weight. (biomedcentral.com)

The SBE investigates the relationship between sex steroids, stress, and mood by examining the pathophysiology of reproductive endocrine-related mood disorders (i.e., premenstrual-, perinatal-, and perimenopausal-related depressions) as well as the physiologic effects of sex steroids on systems relevant to affective modulation and social cognition. (nih.gov)
Concomitant with this emphasis, the subject of study expanded beyond menstrual cycle related mood disorders to include several examples of mood disturbances consequent to changes in levels of gonadal steroids. (nih.gov)
The ESC/E(Z) complex, an effector of response to ovarian steroids, manifests an intrinsic difference in cells from women with premenstrual dysphoric disorder. (nih.gov)
consequently, tissues and functions that depend on gonadal steroids for their maintenance become quiescent. (nih.gov)

In girls, increased ovarian estradiol secretion causes breast development at a mean age of 10 years (range: eight to 12 years). (aafp.org)

Women with evidence of hyperandrogenism and disordered menses have many other medical issues that must be addressed (eg, PCOS with associated diabetes and hypertension). (medscape.com)
Excessive delay in the evaluation and treatment of disordered menses can contribute to osteoporosis. (medscape.com)

The thyroid gland secretes thyroid hormones, which influence the metabolic rate, protein synthesis, and have a wide range of other effects, including on development. (scirp.org)
Hence, Nepal is a country with high risk factors but no any study is attempted to know the burden of thyroid ophthalmopathy and the varieties of ocular manifestations due to thyroid disorder. (scirp.org)
This study is designed to find the rate of ocular manifestation in thyroid disorder in a hospital setting. (scirp.org)
A hospital based cross-sectional study was designed to evaluate the ocular manifestations in patients with thyroid disorder. (scirp.org)
Patients with DS are at increased risk of developing thyroid disorders during childhood. (eurospe.org)

Partial genital undermasculinization can occur if the body has a partial resistance to androgens, or if genital development is blocked, undermasculization can also be induced by certain drugs and hormones. (wikipedia.org)

At the onset of administration, nafarelin stimulates the release of the pituitary gonadotropins, LH and FSH, resulting in a temporary increase of gonadal steroidogenesis. (nih.gov)
We assessed the diagnostic performance of conventional biochemical assessment employing 15 steroid precursor-to-product ratios, each historically established as indicative of a distinct steroidogenesis disorder. (rug.nl)
Conclusion: We present a novel steroid metabolomics approach, able to automatically detect and differentiate six different inborn disorders of steroidogenesis, with improved performance when compared to reference standard metabolite ratios. (rug.nl)

Lowered levels of testosterone and anti-Müllerian hormone disrupts the development of Wolffian ducts and internal genitalia that are key to male reproductive tract development. (wikipedia.org)
Leydig and Sertoli cell development and functions were evaluated by investigating serum testosterone levels, cell number and distribution, genes, and protein expression. (researchgate.net)
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. (sdsu.edu)
The 5α-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, playing a crucial role in male development. (qxmd.com)

These discrepancies can be manifested in different gonadal combinations, including ovotestis with ovary, ovary and testis, bilateral ovotestis, and ovotestis and tesis. (medscape.com)
Polycystic ovary syndrome (PCOS) is an endocrine condition associated with reproductive and psychiatric disorders, and with obesity. (nih.gov)
In this review, we focus our attention on the development of the reptilian and amphibian ovary. (qxmd.com)

Local penile factors and systemic diseases, including diabetes, cardiac disease, and neurologic disorders, can cause ED. Diagnosis is via physical exam and history. (lecturio.com)

Fibrinogen Deficiency A blood coagulation disorder characterized by low levels of fibrinogen in the blood, resulting in bleeding. (nih.gov)

WT1 disorder is characterized by congenital /infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. (nih.gov)
An example of this approach is an ongoing study of the biological basis of language and other cognitive functions in which behavioral, neuroanatomic, and neurophysiologic studies are being carried out in patients with Williams syndrome, a rare metabolic disorder. (nih.gov)
Studies of the development of language in Williams syndrome children are being conducted in conjunction with studies of brain structure and function to address specific questions about the neural substrate for this unusual neuropsychological profile. (nih.gov)
The mutations that cause IMAGe syndrome alter the structure and function of the CDKN1C protein, which inhibits normal growth starting in the early stages of development before birth. (nih.gov)
Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder of reproductive-age women, affecting nearly 5%‒10% of women in the age group. (lecturio.com)

[ 10 ] We also analyzed the presence of SRY sequence in fresh gonadal tissues from this 46,XX male case. (medscape.com)

Orofacial pain and TMD can be associated with pathologic conditions or with disorders related to somatic and neurologic structures, such as primary headache disorders and neurogenic pain disorders. (pocketdentistry.com)

Syndromes, which comprise altered pubertal development as well as obesity should not be dismissed. (thieme-connect.de)

Hypofibrinogenemia A usually inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding. (nih.gov)
A coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood. (nih.gov)

Primary headache disorders are a group of pain disorders that originate in neuropathology and vascular pathology. (pocketdentistry.com)

This research, and similar investigations, will contribute to our understanding of brain organization for language, and other cognitive functions, using a specific neurodevelopmental disorder as a model. (nih.gov)

We believe that several different reproductive endocrine-related mood disorders must be studied if we are to successfully elucidate the roles of reproductive hormones in affective dysregulation. (nih.gov)
Multiple disorders are studied because it is clear that the link between affect and alterations in reproductive hormones changes as a function of context. (nih.gov)
Much recent research has focused on the role of semaphorins in the development and adult activity of hormone systems and, reciprocally, how circulating reproductive hormones regulate their expression and function. (karger.com)
Disorders of reproductive hormones can lead to over- or underdeveloped reproductive organs, virilization or feminization, and problems with fertility. (lecturio.com)
Certain hormones also can affect the development of the sex organs. (chkd.org)

A 4-year-old girl is referred to the local paediatric endocrine unit with signs of pubertal development. (medwirenews.com)
Suspected disorders of pubertal development as well as overweight and obesity belong to every pediatrician's routine. (thieme-connect.de)
Girls with obesity show accelerated pubertal development, on the contrary, this trend is less consistent in boys. (thieme-connect.de)
et al Pubertal development of Turkish children. (thieme-connect.de)
Patients with early isolated pubertal changes, prepubertal linear growth, and no worrisome neurologic symptoms typically have a benign pattern of development and should be monitored in the appropriate clinical context. (aafp.org)

Although iron absorption is enhanced in a number of other inherited disorders (e.g., thalassemia major, iron-loading anemias, hereditary spherocytosis), these are considered secondary, or acquired, forms of iron overload and are not considered in this report. (cdc.gov)

Given the lack of clear correlation between features of anorexia nervosa and subsequent pregnancy complications, there is no clear treatment or preventative measure for this issue, other than treatment of the underlying eating disorder and nutritional deficiencies. (biomedcentral.com)

Maternal diabetes has previously been suggested to be a risk factor for this disorder in one epidemiological study. (researchgate.net)

However, widespread use in the acute setting for diagnosis of these disorders is hampered by the considerable expertise required for interpretation. (rug.nl)
Here we developed a novel steroid metabolomics approach for the detection and differential diagnosis of inborn steroidogenic disorders, combining mass spectrometry-based steroid profiling with machine learning-based data analysis, suitable for automation and interpretation without specialist expertise. (rug.nl)

Our esteemed team of endocrinologists specialise in managing hormonal disorders with precision and compassion. (cytecare.com)

Human and animal models have identified a number of genes responsible for IHH, but more than half of patients with clinical evidence of the disorder do not have a detectable mutation. (nih.gov)

Anatomy7

Organisms4

Diseases67

Chemicals and Drugs31

Analytical, Diagnostic and Therapeutic Techniques and Equipment24

Psychiatry and Psychology82

Phenomena and Processes20

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena2

Information Science6

Named Groups2

Health Care22

Geographicals1

Dysgenesis25

Chromosomal6

Puberty15

Undifferentiated gonadal tissue3

Hypothalamic-pituitary-gonadal2

Testicular9

Abnormalities2

Testis development2

Gonads5

Ovotesticular11

Tumor5

Intersex3

Axis4

Adrenal4

Hermaphroditism1

Steroid hormones2

Genetic5

Atypical1

Chromosome2

Developmental6

Gonadoblastoma1

Chromosomes2

Sexual Development7

Anomalies1

Hypogonadism2

Amenorrhea4

Steroids4

Secretion1

Menses2

Thyroid5

Androgens1

Steroidogenesis3

Testosterone4

Ovary3

Cardiac1

Deficiency1

Syndrome5

Tissues1

Pathologic1

Syndromes1

Partial2

Headache Disorders1

Neurodevelopmental disorder1

Hormones5

Pubertal5

Secondary1

Deficiencies1

Maternal1

Diagnosis2

Hormonal disorders1

Genes1