Thyroid hormone resistance (THR): a case report
... the pituitary gland. In spite of the consumption of an isocaloric diet, a 5.1% weight loss was observed, as well as an increase in heart rate (HR), which suggests sensitivity to thyroid hormone administration (Table 2). In normal individuals, cholesterol, SHGB and ferritin show a response to thyroid ...
... the pituitary gland. In spite of the consumption of an isocaloric diet, a 5.1% weight loss was observed, as well as an increase in heart rate (HR), which suggests sensitivity to thyroid hormone administration (Table 2). In normal individuals, cholesterol, SHGB and ferritin show a response to thyroid ...
position stand on androgen and human growth hormone use
... pregnenolone is metabolized to progesterone by the 3beta-hydroxysteroid dehydrogenase and an isomerase. Progesterone is then converted to 17-alpha-hydroxyprogesterone by 17-alpha-hydroxylase and C17:C21-lyase to androstenedione, then to testosterone by reduction of the 17-keto group by 17-beta-hydro ...
... pregnenolone is metabolized to progesterone by the 3beta-hydroxysteroid dehydrogenase and an isomerase. Progesterone is then converted to 17-alpha-hydroxyprogesterone by 17-alpha-hydroxylase and C17:C21-lyase to androstenedione, then to testosterone by reduction of the 17-keto group by 17-beta-hydro ...
IMPAIRED SENSITIVITY TO THYROID HORMONE: Defects of
... Defects along the pathways leading to TH action can manifest as impaired sensitivity to TH. Six steps are presumed to be required for the circulating thyroid hormone (TH) to exert its action on target tissues. For three of these steps four distinct phenotypes have been identified in humans. The clin ...
... Defects along the pathways leading to TH action can manifest as impaired sensitivity to TH. Six steps are presumed to be required for the circulating thyroid hormone (TH) to exert its action on target tissues. For three of these steps four distinct phenotypes have been identified in humans. The clin ...
thyroid-hormone-resi.. - Thyroid Disease Manager
... Defects along the pathways leading to TH action can manifest as impaired sensitivity to TH. Six steps are presumed to be required for the circulating thyroid hormone (TH) to exert its action on target tissues. For three of these steps four distinct phenotypes have been identified in humans. The clin ...
... Defects along the pathways leading to TH action can manifest as impaired sensitivity to TH. Six steps are presumed to be required for the circulating thyroid hormone (TH) to exert its action on target tissues. For three of these steps four distinct phenotypes have been identified in humans. The clin ...
Reducing prohibitin increases histone acetylation, and
... within tumours, even in the apparent absence of hormone. Proposed mechanisms to explain progression, including AR amplification/mutation, are insufficient to completely explain CRPC and possible roles of AR cofactors such as prohibitin (PHB) are poorly understood. We investigated whether PHB loss coul ...
... within tumours, even in the apparent absence of hormone. Proposed mechanisms to explain progression, including AR amplification/mutation, are insufficient to completely explain CRPC and possible roles of AR cofactors such as prohibitin (PHB) are poorly understood. We investigated whether PHB loss coul ...
... of breast cancer is uncertain, although some studies suggest it; a plausible mechanism is that expression of genes on the noninactivated portions of the second X chromosome facilitates the development of the cancer. Fibroblasts from patients with the XXY genotype have also been shown to have an incr ...
Hormone-mediated maternal effects in birds: mechanisms matter but
... hormones for offspring development, but lack of knowledge about the underlying mechanisms hampers further progress. We discuss several hypotheses concerning these mechanisms, point out their relevance for ecological and evolutionary interpretations, and review the relevant data. We first examine whe ...
... hormones for offspring development, but lack of knowledge about the underlying mechanisms hampers further progress. We discuss several hypotheses concerning these mechanisms, point out their relevance for ecological and evolutionary interpretations, and review the relevant data. We first examine whe ...
Genetic Defects in Thyroid Hormone Synthesis
... gland. Patients with this disorder cannot be identified by neonatal screening program based on TSH measurement. However, neonatal screening for CH on the basis of thyroxine (T4) or free T4 and TSH concentrations can be performed to diagnose this type of CH (32-34). C-CH is more prevalent than previo ...
... gland. Patients with this disorder cannot be identified by neonatal screening program based on TSH measurement. However, neonatal screening for CH on the basis of thyroxine (T4) or free T4 and TSH concentrations can be performed to diagnose this type of CH (32-34). C-CH is more prevalent than previo ...
genetic defects in thyroid hormone supply
... gland. Patients with this disorder cannot be identified by neonatal screening program based on TSH measurement. However, neonatal screening for CH on the basis of thyroxine (T4) or free T4 and TSH concentrations can be performed to diagnose this type of CH (32-34). C-CH is more prevalent than previo ...
... gland. Patients with this disorder cannot be identified by neonatal screening program based on TSH measurement. However, neonatal screening for CH on the basis of thyroxine (T4) or free T4 and TSH concentrations can be performed to diagnose this type of CH (32-34). C-CH is more prevalent than previo ...
Ovarian Androgen Production in Postmenopausal Women
... DHEA, or E2, decreased significantly compared with preoperative levels (P ⬍ 0.05) (Table 3). Despite the statistically significant difference between ovarian venous and peripheral serum concentrations for all of the hormones studied, the significant postoperative decline seen only in T and E1 emphas ...
... DHEA, or E2, decreased significantly compared with preoperative levels (P ⬍ 0.05) (Table 3). Despite the statistically significant difference between ovarian venous and peripheral serum concentrations for all of the hormones studied, the significant postoperative decline seen only in T and E1 emphas ...
Amenorrhea with Secondary Sexual Characteristics and
... defect prevents normal androgen receptor function, leading to the development of the female phenotype • Serum testosterone in normal male range • vagina may be absent or short Obstetrics & Gynecology Hospital of Fudan University ...
... defect prevents normal androgen receptor function, leading to the development of the female phenotype • Serum testosterone in normal male range • vagina may be absent or short Obstetrics & Gynecology Hospital of Fudan University ...
Novel FGF8 Mutations Associated with Recessive
... p.T229M substitution associated with incomplete penetrance, which has previously been described in association with isolated hypogonadotrophic hypogonadism (16, 22). Although the latter patient manifested diabetes insipidus, there was no other evidence of endocrine dysfunction in the two pedigrees. ...
... p.T229M substitution associated with incomplete penetrance, which has previously been described in association with isolated hypogonadotrophic hypogonadism (16, 22). Although the latter patient manifested diabetes insipidus, there was no other evidence of endocrine dysfunction in the two pedigrees. ...
The Role of Leptin-Melanocortin System and Human Weight
... ravages the world could only mean that these obesity genes play a passive role.14,15 However, individuals with these genetic variants may be predisposed to severe or even morbid obesity when exposed to the “obesogenic” environment conducive for weight gain. 14,16 These individuals may possess the “t ...
... ravages the world could only mean that these obesity genes play a passive role.14,15 However, individuals with these genetic variants may be predisposed to severe or even morbid obesity when exposed to the “obesogenic” environment conducive for weight gain. 14,16 These individuals may possess the “t ...
Birth Defects: A learning programme for professionals
... regarding the birth, life and death of people with OCA are common. These myths can affect people’s attitudes to people with OCA, mostly negatively but in some populations positively. Therefore, in many regions of subSaharan Africa there is isolation and stigmatisation of people with OCA. Research fr ...
... regarding the birth, life and death of people with OCA are common. These myths can affect people’s attitudes to people with OCA, mostly negatively but in some populations positively. Therefore, in many regions of subSaharan Africa there is isolation and stigmatisation of people with OCA. Research fr ...
Endogenous Steroid Profiling in the Athlete Biological Passport
... this ratio has been estimated to be as low as 0.04 for the T/E.18 Such a low ratio already questions the pertinence of a population-based threshold (fixed at 4.0 today)19 for the T/E ratio. In addition to general descriptive statistics, the sensitivity and specificity of various methods of interpret ...
... this ratio has been estimated to be as low as 0.04 for the T/E.18 Such a low ratio already questions the pertinence of a population-based threshold (fixed at 4.0 today)19 for the T/E ratio. In addition to general descriptive statistics, the sensitivity and specificity of various methods of interpret ...
Kenneson, A and Warren, ST: The female and the fragile X reviewed. In: Adashi, E. (Ed.) Seminars in Reproductive Medicine 19:159-165 (2001).
... X chromosome may allow passage of full mutation alleles to offspring. As the probability of expansion to full mutation range is directly correlated with the number of repeats,3 this model would predict a negative correlation between premutation repeat size and age at menopause. There is no evidence ...
... X chromosome may allow passage of full mutation alleles to offspring. As the probability of expansion to full mutation range is directly correlated with the number of repeats,3 this model would predict a negative correlation between premutation repeat size and age at menopause. There is no evidence ...
Treatment of Males with Low Testosterone LCD
... Coverage Indications, Limitations, and/or Medical Necessity Noridian has noted a rapid increase in the use of testosterone supplements that exceed the expected use in the Medicare population based on current published data. According to a Health Technology Assessment on Testosterone Testing from the ...
... Coverage Indications, Limitations, and/or Medical Necessity Noridian has noted a rapid increase in the use of testosterone supplements that exceed the expected use in the Medicare population based on current published data. According to a Health Technology Assessment on Testosterone Testing from the ...
Endocrinology II
... adequate replacement for other pituitary hormone deficiencies. Replacement of thyroid hormone without replacement of glucocorticoids can precipitate acute adrenal insufficiency. ...
... adequate replacement for other pituitary hormone deficiencies. Replacement of thyroid hormone without replacement of glucocorticoids can precipitate acute adrenal insufficiency. ...
Cushing`s Syndrome - Turner White Communications
... another, nonendocrine tumor) fail to exhibit the normal negative feedback inhibition of ACTH secretion. ACTHindependent causes result from the hypersecretion of cortisol by neoplasms or from abnormal regulation of the adrenal cortex. In this setting, there is chronic suppression of anterior pituitar ...
... another, nonendocrine tumor) fail to exhibit the normal negative feedback inhibition of ACTH secretion. ACTHindependent causes result from the hypersecretion of cortisol by neoplasms or from abnormal regulation of the adrenal cortex. In this setting, there is chronic suppression of anterior pituitar ...
Page 29 - Australian Doctor
... septum pellucidum. The condition of septo-optic dysplasia is characterised by variable degrees of optic nerve hypoplasia in addition to absence of the septum pellucidum. There may be deficiencies of both anterior and posterior pituitary hormones; hence pubertal development may be delayed or absent. ...
... septum pellucidum. The condition of septo-optic dysplasia is characterised by variable degrees of optic nerve hypoplasia in addition to absence of the septum pellucidum. There may be deficiencies of both anterior and posterior pituitary hormones; hence pubertal development may be delayed or absent. ...
ESPE Classification of Paediatric Endocrine Diagnoses
... are to some extent subjective. However, we have tried to follow the logic of the paediatric endocrine clinician as much as possible, so that it would be as easy as possible to find the diagnosis in the structure of each chapter. We have extensively made use of the lists of causes of disorders as pres ...
... are to some extent subjective. However, we have tried to follow the logic of the paediatric endocrine clinician as much as possible, so that it would be as easy as possible to find the diagnosis in the structure of each chapter. We have extensively made use of the lists of causes of disorders as pres ...
(T3) Receptor Dimers Defines Wild Type T3 Response Elements
... The Influence of Nuclear Proteins on MHC Binding We have previously shown that addition of nuclear proteins to purified T3R enhances binding as well as promoting higher order complexes (8). We used enhancement by nuclear protein to further investigate the role of the rMHC C domain, as well as the im ...
... The Influence of Nuclear Proteins on MHC Binding We have previously shown that addition of nuclear proteins to purified T3R enhances binding as well as promoting higher order complexes (8). We used enhancement by nuclear protein to further investigate the role of the rMHC C domain, as well as the im ...
Full Text
... TSH resistance syndromes (RTSH) can be broadly defined as reduced or absent end-organ responsiveness to thyrotropin or TSH. The other forms of disorders of thyroid may be reduced sensitivity to thyroid hormone which is a process that impairs the effectiveness of thyroid hormone and ersistent elevati ...
... TSH resistance syndromes (RTSH) can be broadly defined as reduced or absent end-organ responsiveness to thyrotropin or TSH. The other forms of disorders of thyroid may be reduced sensitivity to thyroid hormone which is a process that impairs the effectiveness of thyroid hormone and ersistent elevati ...
invitei:> review artigi...es multiple isoforms of thyroid hormone
... exon of TRa1 results in the generation of TRa2. 20 ,21) TRa2 lacks the 40 amino acids of TRa1 at its C-terminus but contains an additional 120 (human) or 122 (rat, mouse) amino acids with no homology to other known sequences. 22 ) This C-terminal region is critical for T 3-binding, hence, TRa2 is in ...
... exon of TRa1 results in the generation of TRa2. 20 ,21) TRa2 lacks the 40 amino acids of TRa1 at its C-terminus but contains an additional 120 (human) or 122 (rat, mouse) amino acids with no homology to other known sequences. 22 ) This C-terminal region is critical for T 3-binding, hence, TRa2 is in ...
resolução: extreme athletes
... of the male sex hormone, androgen. It promotes the growth of skeletal muscle and the development of male sexual characteristics (androgenic effects), and also has some other effects. The term "anabolic steroids" will be used because of its familiarity, although the proper term for these compounds is ...
... of the male sex hormone, androgen. It promotes the growth of skeletal muscle and the development of male sexual characteristics (androgenic effects), and also has some other effects. The term "anabolic steroids" will be used because of its familiarity, although the proper term for these compounds is ...
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.