Anterior Segment Findings in Women with Polycystic Ovary Syndrome
... Objectives: This study aimed to investigate the anterior segment in women with polycystic ovary syndrome (PCOS) and to compare them with those of healthy reproductive-age female volunteers. Materials and Methods: The study included 50 right eyes of 50 women with PCOS (group 1) and 50 right eyes of 5 ...
... Objectives: This study aimed to investigate the anterior segment in women with polycystic ovary syndrome (PCOS) and to compare them with those of healthy reproductive-age female volunteers. Materials and Methods: The study included 50 right eyes of 50 women with PCOS (group 1) and 50 right eyes of 5 ...
TWO PATIENTS WITH X CHROMOSOME DUPLICATION: dupXp
... TWO PATIENTS WITH X DUPLICATIONS active genes in the duplicated region which lead to the phenotypic findings. Different inactivation patterns have also been reported in dup(X) patients [6,10,18]. In some cases there was full inactivation in all cells, in others a mosaic pattern of inactivation wa ...
... TWO PATIENTS WITH X DUPLICATIONS active genes in the duplicated region which lead to the phenotypic findings. Different inactivation patterns have also been reported in dup(X) patients [6,10,18]. In some cases there was full inactivation in all cells, in others a mosaic pattern of inactivation wa ...
Full Text
... hereditary diabetes insipidus is not found in humans. di/di rats are homozygous for a 1-bp deletion in the second exon that results in a frameshift mutation in the coding sequence of the carrier NPII. The mutant allele encodes a normal AVP but an abnormal NPII moiety that impairs transport and proce ...
... hereditary diabetes insipidus is not found in humans. di/di rats are homozygous for a 1-bp deletion in the second exon that results in a frameshift mutation in the coding sequence of the carrier NPII. The mutant allele encodes a normal AVP but an abnormal NPII moiety that impairs transport and proce ...
case study 52
... Treatment for Cushing syndrome is dependent on the specific cause of the disease. Many of the clinical manifestations of drug-induced Cushing syndrome resolve when medication is discontinued. However, to prevent an acute episode of adrenal insufficiency, the corticosteroid medication must be tapered ...
... Treatment for Cushing syndrome is dependent on the specific cause of the disease. Many of the clinical manifestations of drug-induced Cushing syndrome resolve when medication is discontinued. However, to prevent an acute episode of adrenal insufficiency, the corticosteroid medication must be tapered ...
Appendix B5 Development of new reporter gene assay
... line, and the luciferase activity by the yellow line. At the concentration of 10-7 M, the luciferase activity was18% of the control, while the GFP activity was about 100%. This shows that tamoxifen is an antagonist of the estrogen receptor. The antagonist activity of 4-hydroxy tamoxifen is about 100 ...
... line, and the luciferase activity by the yellow line. At the concentration of 10-7 M, the luciferase activity was18% of the control, while the GFP activity was about 100%. This shows that tamoxifen is an antagonist of the estrogen receptor. The antagonist activity of 4-hydroxy tamoxifen is about 100 ...
abnormalities of pubertal development and fertility risk in adolescents
... include Klinefelter syndrome and various other testosterone-deficient states. Tea tree oils and lavender oils have been associated with gynecomastia in boys. Some prescription medications, such as atypical antipsychotics, may cause gynecomastia and galactorrhea. Evidence is mixed regarding the conne ...
... include Klinefelter syndrome and various other testosterone-deficient states. Tea tree oils and lavender oils have been associated with gynecomastia in boys. Some prescription medications, such as atypical antipsychotics, may cause gynecomastia and galactorrhea. Evidence is mixed regarding the conne ...
Perrault Syndrome with Marfanoid Habitus in
... Sensorineural deafness may represent the first step of a more widespread degeneration of the peripheral and central nervous system. However, it does become apparent from literature that a subset of patients may not develop any further neurological involvement. The first patient with the disease foll ...
... Sensorineural deafness may represent the first step of a more widespread degeneration of the peripheral and central nervous system. However, it does become apparent from literature that a subset of patients may not develop any further neurological involvement. The first patient with the disease foll ...
A case of PCOS - Cat`s TCM Notes
... Hirsutism: course hair growth in androgen-dependent body regions such as sideburn area, chin, upper lip, periareolar area, chest, lower abdominal midline and thigh. Acne Oily skin Abnormal menstrual cycles Infertility Virilizing* Clitorimegaly Deepening of the voice Male pattern bald ...
... Hirsutism: course hair growth in androgen-dependent body regions such as sideburn area, chin, upper lip, periareolar area, chest, lower abdominal midline and thigh. Acne Oily skin Abnormal menstrual cycles Infertility Virilizing* Clitorimegaly Deepening of the voice Male pattern bald ...
Androgen receptor CAG repeat length is associated with ovarian
... manner. Poor ovarian response to ovarian stimulation usually indicates a reduction in follicular response, resulting in a reduced number of retrieved oocytes. It has been recognized that, in order to define poor response in IVF, at least two of the following three features must be present: advanced m ...
... manner. Poor ovarian response to ovarian stimulation usually indicates a reduction in follicular response, resulting in a reduced number of retrieved oocytes. It has been recognized that, in order to define poor response in IVF, at least two of the following three features must be present: advanced m ...
Novel Variants in UBE2B Gene and Idiopathic Male Infertility
... the binding sites for SRp40 and hnRNP U in the mutated sequence, but not in the normal sequence. A similar analysis performed for the exon 4 SNP g.9157:A.G showed a potential binding site for the SPp40, SC35, and ASF/SF2 in both normal and mutated sequences, but the binding site for Tra2Beta was pre ...
... the binding sites for SRp40 and hnRNP U in the mutated sequence, but not in the normal sequence. A similar analysis performed for the exon 4 SNP g.9157:A.G showed a potential binding site for the SPp40, SC35, and ASF/SF2 in both normal and mutated sequences, but the binding site for Tra2Beta was pre ...
47,XXY Klinefelter syndrome: Clinical characteristics and
... controls was not associated with serum T but with muscle strength, androgen substitution therapy, age at diagnosis and bone markers. Ferlin et al. [2011b] found no association between bone mass and serum T in a study of 112 patients with XXY not treated with androgens. It has been shown that young m ...
... controls was not associated with serum T but with muscle strength, androgen substitution therapy, age at diagnosis and bone markers. Ferlin et al. [2011b] found no association between bone mass and serum T in a study of 112 patients with XXY not treated with androgens. It has been shown that young m ...
Androgen receptor inhibitor stimulates telomerase activity of
... was observed in comparison to GC cultured under basic conditions (medium only) derived from small antral follicles. Similar results were previously obtained with human granulosa cells which expressed higher aromatase activity in later stages of follicular development [McNatty et al. 1979]. Interesti ...
... was observed in comparison to GC cultured under basic conditions (medium only) derived from small antral follicles. Similar results were previously obtained with human granulosa cells which expressed higher aromatase activity in later stages of follicular development [McNatty et al. 1979]. Interesti ...
UK guidance on the initial evaluation of an infant or an adolescent
... atypical genitalia whereas adolescents present with atypical sexual development during the pubertal years. These clinical situations can often be difficult to manage, particularly in those cases where the sex of rearing is uncertain. Establishing a dialogue and building rapport with the affected chi ...
... atypical genitalia whereas adolescents present with atypical sexual development during the pubertal years. These clinical situations can often be difficult to manage, particularly in those cases where the sex of rearing is uncertain. Establishing a dialogue and building rapport with the affected chi ...
Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms
... Most thoracic aortic aneurysms (TAA)s are degenerative and are often associated with the same risk factors as abdominal aortic aneurysms (eg, atherosclerosis). TAAs may be associated with a genetic predisposition, which can either be familial or related to defined genetic disorders or syndromes. Gen ...
... Most thoracic aortic aneurysms (TAA)s are degenerative and are often associated with the same risk factors as abdominal aortic aneurysms (eg, atherosclerosis). TAAs may be associated with a genetic predisposition, which can either be familial or related to defined genetic disorders or syndromes. Gen ...
a rare presentation of clinical short stature due to
... the growth hormone receptor gene4. The growth hormone receptor has an extracellular growth hormone binding domain, a transmembrane domain and an intracellular signaling domain. Mutations in the extracellular domain interfere with binding of growth hormone resulting in Laron syndrome5. Clinically, pa ...
... the growth hormone receptor gene4. The growth hormone receptor has an extracellular growth hormone binding domain, a transmembrane domain and an intracellular signaling domain. Mutations in the extracellular domain interfere with binding of growth hormone resulting in Laron syndrome5. Clinically, pa ...
HYPERCORTISOLISM CUSHING SYNDROME
... Clinical Features Hormone levels Functional test Localization 4. How to treatment? ...
... Clinical Features Hormone levels Functional test Localization 4. How to treatment? ...
Fact Sheet on Marfan Syndrome
... However, about 25% of the cases occur when the abnormal gene appears in an egg or a sperm (a spontaneous “new” mutation) producing an affected child from two unaffected parents. Marfan Syndrome is inherited as an “autosomal dominant” condition. This means that someone with Marfan Syndrome has a 50-5 ...
... However, about 25% of the cases occur when the abnormal gene appears in an egg or a sperm (a spontaneous “new” mutation) producing an affected child from two unaffected parents. Marfan Syndrome is inherited as an “autosomal dominant” condition. This means that someone with Marfan Syndrome has a 50-5 ...
rcpu newsletter - UF Department of Pediatrics
... Although four genes have been discovered to be associated with Noonan syndrome, diagnosis is generally made on a clinical basis. The presence of classical facial features in addition to any one of the following features: pulmonary valve stenosis, stature plotting less than the third percentile, pect ...
... Although four genes have been discovered to be associated with Noonan syndrome, diagnosis is generally made on a clinical basis. The presence of classical facial features in addition to any one of the following features: pulmonary valve stenosis, stature plotting less than the third percentile, pect ...
Functional Characterization of Truncated Growth Hormone (GH
... partial GHIS showing high serum GHBP levels, in whom we found a novel heterozygous donor splice site mutation in intron 9 of the GHR gene (6). To clarify whether the heterozygous point mutation of the GHR gene is responsible for the clinical characteristics of the patients, we characterized the func ...
... partial GHIS showing high serum GHBP levels, in whom we found a novel heterozygous donor splice site mutation in intron 9 of the GHR gene (6). To clarify whether the heterozygous point mutation of the GHR gene is responsible for the clinical characteristics of the patients, we characterized the func ...
Historical Perspectives: An abridged history of sex steroid hormone
... may enhance the formation of stable preinitiation complexes and thus increase transcription of target genes. Both general coactivators, as well as receptor-specific coactivators exist. Two general coactivators, steroid receptor coactivator-1 (SRC-1) and cAMP response element binding protein-binding ...
... may enhance the formation of stable preinitiation complexes and thus increase transcription of target genes. Both general coactivators, as well as receptor-specific coactivators exist. Two general coactivators, steroid receptor coactivator-1 (SRC-1) and cAMP response element binding protein-binding ...
A Transcriptional Silencing Domain in DAX
... The unusual structure of the DAX-1 protein is suggestive of complex regulatory functions. We have recently shown that DAX-1 binds to hairpin DNA structures and suppresses steroidogenesis in adrenal cells via repression of StAR expression (6). Here we identify transcriptional silencing as another imp ...
... The unusual structure of the DAX-1 protein is suggestive of complex regulatory functions. We have recently shown that DAX-1 binds to hairpin DNA structures and suppresses steroidogenesis in adrenal cells via repression of StAR expression (6). Here we identify transcriptional silencing as another imp ...
OCR Document - UCLA Department of Surgery
... parenchymal defects or non-function, significant renal trauma can exist and not be well demonstrated on the intravenous urogram. Additionally, the intravenous urogram by and large provides only infonnation about the kidneys. In the unstable trauma patient, clearly a one shot intravenous urogram is p ...
... parenchymal defects or non-function, significant renal trauma can exist and not be well demonstrated on the intravenous urogram. Additionally, the intravenous urogram by and large provides only infonnation about the kidneys. In the unstable trauma patient, clearly a one shot intravenous urogram is p ...
Characterization of Value Nutrition’s 5-Androstenediol
... although significant differences were unattainable primarily due to the LNCaP cells reduced adhesion properties. Because reverse-phase HPLC was unable to detect compounds within 5Adiol even at high concentrations, the mitogenicity observed in both cell lines is unable to be correlated with a particu ...
... although significant differences were unattainable primarily due to the LNCaP cells reduced adhesion properties. Because reverse-phase HPLC was unable to detect compounds within 5Adiol even at high concentrations, the mitogenicity observed in both cell lines is unable to be correlated with a particu ...
Hormone Replacement in the Elderly: Facts and Fantasy
... Alvin Matsumoto, MD,[1] of the University of Washington, Seattle, discussed important issues surrounding the use of testosterone replacement therapy in elderly men. Some of these issues are quite basic: How should we interpret low testosterone levels in the elderly, and, because the levels of bioava ...
... Alvin Matsumoto, MD,[1] of the University of Washington, Seattle, discussed important issues surrounding the use of testosterone replacement therapy in elderly men. Some of these issues are quite basic: How should we interpret low testosterone levels in the elderly, and, because the levels of bioava ...
20 Primary and Secondary Amenorrhea
... aesthetics is needed (Golden & Carlson, 2008). In particular, in athletes there is a risk of amenorrhea three times higher than in general population, with predominance between long-distance runners (Warren & Goodman, 2003). Interestingly, a peculiar condition called the “female athlete triad” has b ...
... aesthetics is needed (Golden & Carlson, 2008). In particular, in athletes there is a risk of amenorrhea three times higher than in general population, with predominance between long-distance runners (Warren & Goodman, 2003). Interestingly, a peculiar condition called the “female athlete triad” has b ...
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.