Mechanisms of Disease: mutations of G proteins and G
... G proteins and G-protein-coupled receptors (GPCRs) mediate the effects of a number of hormones. Genes that encode these molecules are subject to loss-of function or gain-of-function mutations that result in endocrine disorders. Loss-of-function mutations prevent signaling in response to the correspo ...
... G proteins and G-protein-coupled receptors (GPCRs) mediate the effects of a number of hormones. Genes that encode these molecules are subject to loss-of function or gain-of-function mutations that result in endocrine disorders. Loss-of-function mutations prevent signaling in response to the correspo ...
G Protein-Coupled Receptors: Extranuclear Mediators for the
... progesterone has been a matter of debate. Early attempts, with the use of molecular cloning approach to screen cDNAs encoding proteins with progesterone-binding domain, identified a Xenopus homolog of nuclear PR (xPR), which was thought to mediate the rapid activation of progesterone on oocyte [37,3 ...
... progesterone has been a matter of debate. Early attempts, with the use of molecular cloning approach to screen cDNAs encoding proteins with progesterone-binding domain, identified a Xenopus homolog of nuclear PR (xPR), which was thought to mediate the rapid activation of progesterone on oocyte [37,3 ...
puberty
... • Concomitant illnesses, postnatal exposure to sex steroids • Time of first sign of puberty – Thelarche (galactorrhea) development of breast, testicles – Adrenarche/pubarche (body odor, axillary & pubic hair, acne) development of pubic and axillary hair. – Menarche menstruation – Gonadarche ...
... • Concomitant illnesses, postnatal exposure to sex steroids • Time of first sign of puberty – Thelarche (galactorrhea) development of breast, testicles – Adrenarche/pubarche (body odor, axillary & pubic hair, acne) development of pubic and axillary hair. – Menarche menstruation – Gonadarche ...
the role of hypothalamus in homeostasis
... -collect 2 24-hr urines for urinary free cortisol (serves as baseline) -pt then treated w/low-dose dexamethasone for 48 hrs during which pt has to continue to collect urine for urinary free cortisol -Normal pts: dexamethasone will cause fall of >50% in urinary free cortisol production -Pt then treat ...
... -collect 2 24-hr urines for urinary free cortisol (serves as baseline) -pt then treated w/low-dose dexamethasone for 48 hrs during which pt has to continue to collect urine for urinary free cortisol -Normal pts: dexamethasone will cause fall of >50% in urinary free cortisol production -Pt then treat ...
Neonatal-onset hereditary coproporphyria with male
... mutation and a normal allele, whereas the mother’s findings were normal. This, however, seemed confusing because the mother showed a slight elevation of coproporphyrin and protoporphyrin (Table 1). Psychological stress might have been the cause of the elevation. It is also possible that she had a mu ...
... mutation and a normal allele, whereas the mother’s findings were normal. This, however, seemed confusing because the mother showed a slight elevation of coproporphyrin and protoporphyrin (Table 1). Psychological stress might have been the cause of the elevation. It is also possible that she had a mu ...
3-Adrenal Gloand, 2014
... aldosterone release occurs in response to activation of the renin-angiotensin system ...
... aldosterone release occurs in response to activation of the renin-angiotensin system ...
Use of Finasteride- Oral Contraceptive Pill Combination
... for treatment of androgenetic alopecia in men.[18] The largest application of finasteride consists in treating benign prostate hyperplasia, in women finasteride has been used in some control trials for treatment of hirsutism.[19] Finasteride is a preferential, competitive inhibitor of the intracellu ...
... for treatment of androgenetic alopecia in men.[18] The largest application of finasteride consists in treating benign prostate hyperplasia, in women finasteride has been used in some control trials for treatment of hirsutism.[19] Finasteride is a preferential, competitive inhibitor of the intracellu ...
4-Gonads
... another factor called inhibin, which is secreted from Sertoli's cells (in testes) or from mature sperm. Therefore if there is low FSH this will result in oligospermia or azoospermia and infertility in males The indicators of defect in spermatogenesis are high levels of FSH (in blood), with very low ...
... another factor called inhibin, which is secreted from Sertoli's cells (in testes) or from mature sperm. Therefore if there is low FSH this will result in oligospermia or azoospermia and infertility in males The indicators of defect in spermatogenesis are high levels of FSH (in blood), with very low ...
Endocrinology
... 7 year male presents with 6 month history of pubic and axillary hair growth as well as adult body odor. Mother thinks he is growing faster than his peers No exposure to androgens PM&SH – nil of note Mother had menarche at 12 yr Father had normal timing of his puberty ...
... 7 year male presents with 6 month history of pubic and axillary hair growth as well as adult body odor. Mother thinks he is growing faster than his peers No exposure to androgens PM&SH – nil of note Mother had menarche at 12 yr Father had normal timing of his puberty ...
Voice Changes after Androgen Therapy for
... gonadotropins luteinizing hormone (LH) and folliclestimulating hormone (FSH). In male idiopathic hypogonadotropic hypogonadism (IHH), gonadotropin secretion is impaired, resulting in a failure of sexual maturation. The impact of sexual development on the voice is illustrated by the retention of femi ...
... gonadotropins luteinizing hormone (LH) and folliclestimulating hormone (FSH). In male idiopathic hypogonadotropic hypogonadism (IHH), gonadotropin secretion is impaired, resulting in a failure of sexual maturation. The impact of sexual development on the voice is illustrated by the retention of femi ...
AHA Medical/Scientific Statement
... penetrance increasing with age, in which the initial phenotypic appearance of left ventricular hypertrophy may occur later in adulthood. Although several disease-causing mutations have been defined for HCM, the clinical consequences of these gene defects and their contribution to disease incidence a ...
... penetrance increasing with age, in which the initial phenotypic appearance of left ventricular hypertrophy may occur later in adulthood. Although several disease-causing mutations have been defined for HCM, the clinical consequences of these gene defects and their contribution to disease incidence a ...
Micro syndrome
... They may be unable to walk and sit, and may not have sphincter control. Delayed puberty is seen, or pubertal signs may not be seen on follow-up. Optic atrophy becomes more obvious with increasing age [2-3,6,8]. Diagnostic methods A detailed ophthalmologic examination is necessary in any infant suspe ...
... They may be unable to walk and sit, and may not have sphincter control. Delayed puberty is seen, or pubertal signs may not be seen on follow-up. Optic atrophy becomes more obvious with increasing age [2-3,6,8]. Diagnostic methods A detailed ophthalmologic examination is necessary in any infant suspe ...
Cryptorchidism in the Dog - Reproductive Revolutions
... understanding of sexual differentiation and development. Normal sexual development in the dog is dependent upon 3 factors: 1) the sex chromosomes; 2) normal development of the ovaries or testicles; 3) normal development of the external genitalia (vulva, prepuce) and the effects of the sex steroid ho ...
... understanding of sexual differentiation and development. Normal sexual development in the dog is dependent upon 3 factors: 1) the sex chromosomes; 2) normal development of the ovaries or testicles; 3) normal development of the external genitalia (vulva, prepuce) and the effects of the sex steroid ho ...
Cryptorchidism in Dogs - Canine Genetic Reserve
... understanding of sexual differentiation and development. Normal sexual development in the dog is dependent upon 3 factors: 1) the sex chromosomes; 2) normal development of the ovaries or testicles; 3) normal development of the external genitalia (vulva, prepuce) and the effects of the sex steroid ho ...
... understanding of sexual differentiation and development. Normal sexual development in the dog is dependent upon 3 factors: 1) the sex chromosomes; 2) normal development of the ovaries or testicles; 3) normal development of the external genitalia (vulva, prepuce) and the effects of the sex steroid ho ...
Topical Endocrinology - Frontiers in Bioscience
... FMPP patients, somatic activating mutation of the LHR has also been found in Leydig cell adenoma. Liu et al. (62) reported the presence of an activating mutation Asp578His in the LHR gene in Leydig cell adenoma tissue of three boys. This mutation was not present in adjacent normal tissue or blood ce ...
... FMPP patients, somatic activating mutation of the LHR has also been found in Leydig cell adenoma. Liu et al. (62) reported the presence of an activating mutation Asp578His in the LHR gene in Leydig cell adenoma tissue of three boys. This mutation was not present in adjacent normal tissue or blood ce ...
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)
... other organs with high frequency of malignant transformation, especially in the breast and thyroid,[5,6]. The disease is associated with a germ line mutation of the PTEN gene (10q 22-23)7. This rare clinical entity is well known to dermatologists and stomatologists because mucocutaneous lesions are ...
... other organs with high frequency of malignant transformation, especially in the breast and thyroid,[5,6]. The disease is associated with a germ line mutation of the PTEN gene (10q 22-23)7. This rare clinical entity is well known to dermatologists and stomatologists because mucocutaneous lesions are ...
Genetic Analysis Report (Summary Sheet) as outlined by Dr
... genetic mutation points that are analyzed from Dr. Yasko’s “Economy Basic SNP III Panel.” This panel can be ordered from www.testing4health.com. For a more in depth explanation about your/or your child’s panel results you can order a genetic analysis report directly from Dr. Yasko’s office. For more ...
... genetic mutation points that are analyzed from Dr. Yasko’s “Economy Basic SNP III Panel.” This panel can be ordered from www.testing4health.com. For a more in depth explanation about your/or your child’s panel results you can order a genetic analysis report directly from Dr. Yasko’s office. For more ...
Congenital Hypogonadotropic Hypogonadism Due to
... boundaries were identical to reference sequences, but we identified two novel missense mutations in the gene encoding the GNRH receptor (GNRHR1: NM_000406.2; HGNC: 4421), see Figure 2. The proband’s DNA profile showed two heterozygous mutations, one mutation was a C-to-G transversion at cDNA nucleot ...
... boundaries were identical to reference sequences, but we identified two novel missense mutations in the gene encoding the GNRH receptor (GNRHR1: NM_000406.2; HGNC: 4421), see Figure 2. The proband’s DNA profile showed two heterozygous mutations, one mutation was a C-to-G transversion at cDNA nucleot ...
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... fixation 5 µm thick sections were taken and stained with hematoxylin and eosin. Each slide was examined for histopathological changes under light microscope. ...
... fixation 5 µm thick sections were taken and stained with hematoxylin and eosin. Each slide was examined for histopathological changes under light microscope. ...
Secondary Amenorrhea DR FARAH DEEBA ASST PROF GYN UNIT
... BMI > 30 kg/m2 seen in 50% of women with PCOS BMI < 18.5 kg/m2 may have functional hypothalamic amenorrhea Signs of systemic illness/cachexia Evaluate genital tissue for signs of estrogen deficiency Palpate breasts/attempt to express galactorrhea Neuro exam for visual field defects Skin ex ...
... BMI > 30 kg/m2 seen in 50% of women with PCOS BMI < 18.5 kg/m2 may have functional hypothalamic amenorrhea Signs of systemic illness/cachexia Evaluate genital tissue for signs of estrogen deficiency Palpate breasts/attempt to express galactorrhea Neuro exam for visual field defects Skin ex ...
Leukaemia Section t(9;17)(p13;p12) PAX5/NCOR1 Atlas of Genetics and Cytogenetics in Oncology and Haematology
... with the ID3 and ID2 domains of NCOR1 (ID domains contain an isoleucine-rich domain, named the CoRNR box, this CoRNR box is required for nuclear hormone receptors interaction). SANT-like domains promote histone deacetylation. Repression is mediated by formation of a large corepressor complex that co ...
... with the ID3 and ID2 domains of NCOR1 (ID domains contain an isoleucine-rich domain, named the CoRNR box, this CoRNR box is required for nuclear hormone receptors interaction). SANT-like domains promote histone deacetylation. Repression is mediated by formation of a large corepressor complex that co ...
Testosterone
... Testosterone is an androgen, one of the masculinizing hormones that lead to muscle tissue development, lowering of the voice, and overall growth. It also affects libido, memory, and lean body mass, and it may contribute to mood issues and irritability. Contrary to popular belief, testosterone is not ...
... Testosterone is an androgen, one of the masculinizing hormones that lead to muscle tissue development, lowering of the voice, and overall growth. It also affects libido, memory, and lean body mass, and it may contribute to mood issues and irritability. Contrary to popular belief, testosterone is not ...
Molecular and pharmacological characterization of dominant black
... We have amplified and sequenced the complete coding region of the MC1-R gene in two sheep of the Norwegian Dala breed. One of the animals was completely white, while the other was black (Fig. 1A). In both animals we found one continuous open reading frame (ORF) containing two additional amino acids ...
... We have amplified and sequenced the complete coding region of the MC1-R gene in two sheep of the Norwegian Dala breed. One of the animals was completely white, while the other was black (Fig. 1A). In both animals we found one continuous open reading frame (ORF) containing two additional amino acids ...
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.