TSH Receptor Mutations and Diseases
... the TSH receptor gene, which segregated in perfect linkage with the disease 11. A series of additional families have been studied since 6;12-32. [See figure 1 and table 1. For a complete list of TSH receptor gene mutations with their functional characteristics, see “Glycoprotein-hormone receptor inf ...
... the TSH receptor gene, which segregated in perfect linkage with the disease 11. A series of additional families have been studied since 6;12-32. [See figure 1 and table 1. For a complete list of TSH receptor gene mutations with their functional characteristics, see “Glycoprotein-hormone receptor inf ...
Question: 6
... with height age are reassuring. Assessment of serum adrenal androgens at baseline and 60 minutes after ACTH stimulation can determine if this child has late-onset adrenal hyperplasia. Steroid 21-hydroxylase deficiency accounts for 95% of CAH. Ultrasonography may be indicated if androgens values sug ...
... with height age are reassuring. Assessment of serum adrenal androgens at baseline and 60 minutes after ACTH stimulation can determine if this child has late-onset adrenal hyperplasia. Steroid 21-hydroxylase deficiency accounts for 95% of CAH. Ultrasonography may be indicated if androgens values sug ...
13 Anterior Pituitary Hormones
... 3.2. GH Gene The human GH genomic locus contains a cluster of five highly conserved genes and spans approx 66 kb on the long arm of chromosome 17 (q22-24). All these genes have the same basic structure consisting of five exons separated by four introns. The hGH gene codes for a 22-kDa protein (Fig. ...
... 3.2. GH Gene The human GH genomic locus contains a cluster of five highly conserved genes and spans approx 66 kb on the long arm of chromosome 17 (q22-24). All these genes have the same basic structure consisting of five exons separated by four introns. The hGH gene codes for a 22-kDa protein (Fig. ...
Differential Diagnosis of Hyperthyroxinemia and Nonsuppressed TSH.
... Consider THRB mutation testing on 1st degree relatives ...
... Consider THRB mutation testing on 1st degree relatives ...
REI Fellowship Program - American University of Beirut
... The Fellowship Program is comprised of faculty from the Division of Reproductive Endocrinology and Infertility (REI) in the Department of Obstetrics and Gynecology at AUBMC. The mission of the Division of REI is to enhance the quality of care for infertile couples in Lebanon and the Middle East. To ...
... The Fellowship Program is comprised of faculty from the Division of Reproductive Endocrinology and Infertility (REI) in the Department of Obstetrics and Gynecology at AUBMC. The mission of the Division of REI is to enhance the quality of care for infertile couples in Lebanon and the Middle East. To ...
Effects of Sex Steroid Deprivation/Administration on Hair
... epithelial cells of the sebaceous gland and the mesenchymal cells of the hair follicle dermal papilla contain androgen receptors (1). For most of its actions on the skin, testosterone is converted into 5 -dihydrotestosterone by 5 -reductase. Only a small fraction of 5 dihydrotestosterone reenters th ...
... epithelial cells of the sebaceous gland and the mesenchymal cells of the hair follicle dermal papilla contain androgen receptors (1). For most of its actions on the skin, testosterone is converted into 5 -dihydrotestosterone by 5 -reductase. Only a small fraction of 5 dihydrotestosterone reenters th ...
Pregnancy complicated by spontaneous ovarian hyperstimulation
... [15]. Our patient developed her signs in the second trimester and no androgenization was observed. High levels of hCG are not observed in all cases of OHSS [2, 17]. In hypothyroid women, elevated concentrations of TSH may stimulate follicular growth and mediate OHSS because of the presence of nuclea ...
... [15]. Our patient developed her signs in the second trimester and no androgenization was observed. High levels of hCG are not observed in all cases of OHSS [2, 17]. In hypothyroid women, elevated concentrations of TSH may stimulate follicular growth and mediate OHSS because of the presence of nuclea ...
The Evaluation and Management of Hirsutism
... determining the development of hirsutism are the sparse terminal body hair of patients with androgen receptor ...
... determining the development of hirsutism are the sparse terminal body hair of patients with androgen receptor ...
Endo Board Review
... 25% at SMR 3, and 10% at SMR 5. Primary amenorrhea is defined as having no menstrual period by the age of 16 years. In evaluating primary amenorrhea, the clinician needs to determine if there is a hypothalamic-pituitaryovarian axis abnormality or a genital anomaly (eg, imperforate hymen or agenesis ...
... 25% at SMR 3, and 10% at SMR 5. Primary amenorrhea is defined as having no menstrual period by the age of 16 years. In evaluating primary amenorrhea, the clinician needs to determine if there is a hypothalamic-pituitaryovarian axis abnormality or a genital anomaly (eg, imperforate hymen or agenesis ...
eau guidelines on male hypogonadism
... the preparation with a joint decision by an informed patient and the physician. Use short-acting preparations rather than longacting depot administration when starting the initial treatment, so that therapy can be adjusted or stopped in case of adverse side-effects. Do not use testosterone therapy i ...
... the preparation with a joint decision by an informed patient and the physician. Use short-acting preparations rather than longacting depot administration when starting the initial treatment, so that therapy can be adjusted or stopped in case of adverse side-effects. Do not use testosterone therapy i ...
evaluation of androgen and progesterone levels of
... SUMMARY : The purpose of the study was to determine whether maternal serum levels of androgen and progesterone, are higher in patient with preeclampsia than in matched control subjects. Serum progesterone, total testosterone, free testosterone and dehydroepiandrosterone levels were measured in 19 su ...
... SUMMARY : The purpose of the study was to determine whether maternal serum levels of androgen and progesterone, are higher in patient with preeclampsia than in matched control subjects. Serum progesterone, total testosterone, free testosterone and dehydroepiandrosterone levels were measured in 19 su ...
Genetic aspects of premature ovarian failure: A literature review
... screening on women presenting with POF identified trisomy X in 3% of cases [21]. In trisomy X, a large percentage of the reported cases of POF have also been associated with autoimmune diseases, including autoimmune thyroid disorder [21]. ...
... screening on women presenting with POF identified trisomy X in 3% of cases [21]. In trisomy X, a large percentage of the reported cases of POF have also been associated with autoimmune diseases, including autoimmune thyroid disorder [21]. ...
Topic Update for Thyroid Dyshormonogenesis
... The aetiologies of CH are summarized in Table 1.(7) Approximately 80 - 85% of CH are caused by thyroid dysgenesis, which is a group of congenital disorders of thyroid gland development or migration. Affected patients may have complete thyroid gland aplasia, hypoplasia or ectopic glands. The large ma ...
... The aetiologies of CH are summarized in Table 1.(7) Approximately 80 - 85% of CH are caused by thyroid dysgenesis, which is a group of congenital disorders of thyroid gland development or migration. Affected patients may have complete thyroid gland aplasia, hypoplasia or ectopic glands. The large ma ...
Ehlers-Danlos Syndrome, Hypermobility Type - newtons
... The prevalence of EDS, hypermobility type is unknown. Estimates have ranged between 1:5,000 and 1:20,000, and depend in part on whether or not the familial articular hypermobility syndrome is included. Given the clinical variability and low probability of affected males being ascertained, the preval ...
... The prevalence of EDS, hypermobility type is unknown. Estimates have ranged between 1:5,000 and 1:20,000, and depend in part on whether or not the familial articular hypermobility syndrome is included. Given the clinical variability and low probability of affected males being ascertained, the preval ...
عرض تقديمي من PowerPoint
... Exclusion of a serious organic disease or a chromosome variation is the primary goal in an adolescent presenting with true delayed sexual development. If all is normal, and puberty is just late, simple reassurance is all that is needed. Delay, especially when accompanied by short stature, can produc ...
... Exclusion of a serious organic disease or a chromosome variation is the primary goal in an adolescent presenting with true delayed sexual development. If all is normal, and puberty is just late, simple reassurance is all that is needed. Delay, especially when accompanied by short stature, can produc ...
- Journal of Clinical Investigation
... DNA (cDNA) (9-1 1). Sequences involved in the enzymatic mechanism have been postulated by comparison with related peroxidase enzymes (12). The TPO gene, located on chromosome 2 [2pter-2p24] (10, 13) consists of 17 exons and 16 introns ( 14). Congenital TPO defects, typically transmitted as autosomal ...
... DNA (cDNA) (9-1 1). Sequences involved in the enzymatic mechanism have been postulated by comparison with related peroxidase enzymes (12). The TPO gene, located on chromosome 2 [2pter-2p24] (10, 13) consists of 17 exons and 16 introns ( 14). Congenital TPO defects, typically transmitted as autosomal ...
Male Sex Hormones and Related Disorders
... age and are thus usually biochemically obvious, however, constitutional delay and pituitary/hypothalamic defects both have low testosterone and low or normal LH and FSH levels and are thus difficult to differentiate from each other biochemically. Further testing for such cases would include prolacti ...
... age and are thus usually biochemically obvious, however, constitutional delay and pituitary/hypothalamic defects both have low testosterone and low or normal LH and FSH levels and are thus difficult to differentiate from each other biochemically. Further testing for such cases would include prolacti ...
Estrogen Receptors: Structure, Mechanisms and Function
... thus, there are two ER molecules: the original ER ``a'', and the recently discovered ER ``b''. By comparing the ER sequences it is apparent that both share a general domain structure common to ligand modulated nuclear transcription factors [3]. The current understanding of ER mechanisms of action ca ...
... thus, there are two ER molecules: the original ER ``a'', and the recently discovered ER ``b''. By comparing the ER sequences it is apparent that both share a general domain structure common to ligand modulated nuclear transcription factors [3]. The current understanding of ER mechanisms of action ca ...
The Shortest in the Class
... Growth: The timely management of growth failure will affect many aspects of Turner’s syndrome, including the age at which estrogen replacement is begun, socialization and academic achievement. Height should be plotted on growth curves specific for Turner’s syndrome patients. Though these patients ar ...
... Growth: The timely management of growth failure will affect many aspects of Turner’s syndrome, including the age at which estrogen replacement is begun, socialization and academic achievement. Height should be plotted on growth curves specific for Turner’s syndrome patients. Though these patients ar ...
Inherited Tandem Duplication of the X Chromosome: Dup(X)(q13.2
... constitution of genes expressed from the X chromosome between males and females (Lyon's hypothesis). If the cell's active X chromosome contains a duplication, the 2 copies of the genes are both abnormally expressed. The phenotype of the proband is considered to be the consequence of a functional dis ...
... constitution of genes expressed from the X chromosome between males and females (Lyon's hypothesis). If the cell's active X chromosome contains a duplication, the 2 copies of the genes are both abnormally expressed. The phenotype of the proband is considered to be the consequence of a functional dis ...
Thyroid Stimulating Hormone Receptor
... pathway plays a critical role for thyroid cell growth and proliferation. It acts via common pathways as other oncogenes and has a role in controlling cell growth and carcinogenesis. Several animal studies were performed to evaluate the role of TSHR signaling pathway and its relation with other oncog ...
... pathway plays a critical role for thyroid cell growth and proliferation. It acts via common pathways as other oncogenes and has a role in controlling cell growth and carcinogenesis. Several animal studies were performed to evaluate the role of TSHR signaling pathway and its relation with other oncog ...
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)
... An interesting case of Persistent Mullerian Duct Syndrome- An incidental finding 3 anatomic variants have been described .In the most common variant, one testis is usually found in the scrotum, and the uterus and ipsilateral fallopian tubes in the inguinal canal .In some cases contralateral testis ...
... An interesting case of Persistent Mullerian Duct Syndrome- An incidental finding 3 anatomic variants have been described .In the most common variant, one testis is usually found in the scrotum, and the uterus and ipsilateral fallopian tubes in the inguinal canal .In some cases contralateral testis ...
Genetic Obesity Syndromes
... methylation can be used as a reliable postnatal diagnostic tool in PWS. Small deletions encompassing only the HBII-85 family of snoRNAs have been reported in association with the cardinal features of PWS including obesity [4, 5], suggesting that these noncoding sequences and the genes they regulate ...
... methylation can be used as a reliable postnatal diagnostic tool in PWS. Small deletions encompassing only the HBII-85 family of snoRNAs have been reported in association with the cardinal features of PWS including obesity [4, 5], suggesting that these noncoding sequences and the genes they regulate ...
Thyroid hormone resistance: a novel mutation in thyroid hormone
... This hormone-receptor interaction activates or represses specific target genes13. All the described mutations in TR-β cause a reduced binding affinity for the ligand (T 3 ) or an impaired interaction with cofactors. As a result, the mutant TR interferes with the function of normal TRs (dominant nega ...
... This hormone-receptor interaction activates or represses specific target genes13. All the described mutations in TR-β cause a reduced binding affinity for the ligand (T 3 ) or an impaired interaction with cofactors. As a result, the mutant TR interferes with the function of normal TRs (dominant nega ...
Androgen insensitivity syndrome
Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens (androgenic hormones) that stimulate or control the development and maintenance of male physiological characteristics by binding to androgen receptors. The unresponsiveness of the cell to the presence of androgenic hormones can impair, or prevent, both the masculinization of male genitalia in the developing fetus, and the development of male secondary sexual characteristics at puberty, though it does not significantly impair the development of female genital or sexual characteristics in females and males with the condition. As such, androgen insensitivity syndrome is of clinical significance only when it occurs in individuals that are genetically male (that is, persons with a Y-chromosome, or more specifically, an SRY gene).Clinical phenotypes in genetically male individuals with androgen insensitivity syndrome range from a normal external male body plus mild spermatogenic defect in post-pubertal stages, to a full female external body (although internal gonads are male testes instead of female ovaries) including post-pubertal external female characteristic development, despite the presence of a Y-chromosome. Both genetically male and genetically female individuals with AIS show reduced to no secondary terminal hair development.In genetic males with AIS, the condition is divided into three categories that are differentiated by the degree of genital masculinization: CAIS, or complete androgen insensitivity syndrome, is indicated when the external genitalia are that of a normal female; PAIS, or partial androgen insensitivity syndrome, is indicated when the external genitalia are partially, but not fully, masculinized; MAIS, or mild androgen insensitivity syndrome, is indicated when the external genitalia are that of a normal male.Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinized genitalia in intersex persons. As with other intersex conditions, androgen insensitivity syndrome is independent of both sexual orientation and gender identity. The full spectrum of human sexual orientations has been reported among genetically female and genetically male AIS individuals alike, including: androphilia (i.e. sexual attraction to males) reported by most female-identified genetically-male female-bodied CAIS individuals; gynephilia (i.e. sexual attraction to females) reported even among some female-identified genetically-male female-bodied CAIS individuals in ""lesbian"" relationships; ambiphilia (bisexuality).Similarly, although AIS individuals may report any gender identity, a female gender identity is the gender identity of most, but not all, genetically-male female-bodied individuals with CAIS. Historically, however, the gender identity of CAIS individuals who identify as female has often been the cause of negative social bias and discrimination once their condition is made public. It is a matter of contention for some whether a CAIS individual with a female gender identity and external female body but genetic male sex should be regarded as ""transgender"". Some might regard such a person as ""transgender"" for identifying as female despite their genetic sex being male (even though they have an external female body), or they can be regarded as simply identifying as female in harmony to their external female body (despite their genetic male sex). Much social debate and litigation has resulted as a consequence of both arguments.Male gender identities among a minority of individuals with complete androgen insensitivity syndrome, have also been reported. This has resulted in CAIS individuals who are genetically male with an external female body but a male gender identity (irrespective of sexual orientation). A male gender identity among this minority, however, does not eliminate social contentions among some as to whether these individuals are ""transgender"", as they might be regarded to be identifying as male despite their external female body (even though their genetic sex is male), or they can be regarded as simply identifying as male in harmony to their genetic male sex (despite their external female body). This contention can be seen even in modern medical literature, where in one case study the genetically male CAIS patient with male gender identity was said to ""qualif[y] as female-to-male transsexual"" after undergoing genital reconstruction surgery.