Ectopic Corticotropin-Releasing Hormone (CRH) Syndrome from a
... be performed after the patient’s blood pressure was controlled and infection was prevented, but the biopsy tissue was insufficient to identify the cell type. A biopsy with thoracoscopy was not attempted because the patient faced the significant risk of lung infection and bronchopleural fistula. Seco ...
... be performed after the patient’s blood pressure was controlled and infection was prevented, but the biopsy tissue was insufficient to identify the cell type. A biopsy with thoracoscopy was not attempted because the patient faced the significant risk of lung infection and bronchopleural fistula. Seco ...
AACE Medical Guidelines for Clinical Practice for Diagnosis and
... for hairiness of nonhormonal origin, in contrast to hirsutism and its extreme, virilization. Familial hairiness may be genetic or hormonal. Age-dependent variation in hairiness has also been reported (11). The presence of substantial numbers of terminal hairs on the lower back, sternum, abdomen, sho ...
... for hairiness of nonhormonal origin, in contrast to hirsutism and its extreme, virilization. Familial hairiness may be genetic or hormonal. Age-dependent variation in hairiness has also been reported (11). The presence of substantial numbers of terminal hairs on the lower back, sternum, abdomen, sho ...
A Large Homozygous or Heterozygous In
... gain-of-function, but there was no difference between cells transfected with mutant complementary DNA alone or cotransfected with mutant and WT complementary DNAs, consistent with the similar phenotypes of heterozygous and homozygous family members. Therefore, this activating deletion may exert a do ...
... gain-of-function, but there was no difference between cells transfected with mutant complementary DNA alone or cotransfected with mutant and WT complementary DNAs, consistent with the similar phenotypes of heterozygous and homozygous family members. Therefore, this activating deletion may exert a do ...
MEANING OF VLAD IN GENESIS 11:30:
... a woman without secondary sexual characteristics: in other words, no pubic hair, deep voice, etc. (see: TB Niddah 47b). While the Bible describes Sarah as a beautiful woman (Gen. 12:11), the Talmud indicates that she was not completely developed physically. To a clinician, this scenario is an obviou ...
... a woman without secondary sexual characteristics: in other words, no pubic hair, deep voice, etc. (see: TB Niddah 47b). While the Bible describes Sarah as a beautiful woman (Gen. 12:11), the Talmud indicates that she was not completely developed physically. To a clinician, this scenario is an obviou ...
Congenital Deafness and Goiter: Pendred Syndrome
... The perchlorate discharge test (PDT) was long considered to be the most important criterion for the diagnosis of Pendred syndrome (1). It is used to demonstrate the presence of an iodide organification defect in the thyroid gland. Radioactively labeled iodine is administered, followed by perchlorate ...
... The perchlorate discharge test (PDT) was long considered to be the most important criterion for the diagnosis of Pendred syndrome (1). It is used to demonstrate the presence of an iodide organification defect in the thyroid gland. Radioactively labeled iodine is administered, followed by perchlorate ...
Title: RECEPTORS of THYROID HORMONES Running title
... one, the recognition helix, that binds the major groove of DNA, contains the P box that makes contacts with specific DNA bases of the response element. The second helix contains the D box and forms a right angle with the recognition helix (Rastinejad et al. 1995). The D domain is not well conserved ...
... one, the recognition helix, that binds the major groove of DNA, contains the P box that makes contacts with specific DNA bases of the response element. The second helix contains the D box and forms a right angle with the recognition helix (Rastinejad et al. 1995). The D domain is not well conserved ...
Aromatase Deficiency - Journal of the Association of Physicians of
... virilization of the mother during pregnancy.1 This may explain the lack of virilization in our patient’s mother during pregnancy.3 Case reports2,4 of aromatase deficiency with high 17 OHP due to precursor accumulation secondary to the block in estrogen synthesis indicate that this disorder may indee ...
... virilization of the mother during pregnancy.1 This may explain the lack of virilization in our patient’s mother during pregnancy.3 Case reports2,4 of aromatase deficiency with high 17 OHP due to precursor accumulation secondary to the block in estrogen synthesis indicate that this disorder may indee ...
A Case of Congenital Adrenal Hyperplasia Mimicking Cushing`s
... patients with adrenal incidentalomas and hypercortisolism. In the beginning, we also did not consider the diagnosis of CAH because biochemical tests showed elevated urine cortisol level in 2 separate measurements and the patient had clinical evidences suggesting hypercortisolism such as buffalo hu ...
... patients with adrenal incidentalomas and hypercortisolism. In the beginning, we also did not consider the diagnosis of CAH because biochemical tests showed elevated urine cortisol level in 2 separate measurements and the patient had clinical evidences suggesting hypercortisolism such as buffalo hu ...
dub in adolescents history
... Once cylic menses established it is still normal to have an occasional anovulatory cycle ...
... Once cylic menses established it is still normal to have an occasional anovulatory cycle ...
Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1
... G35E mutation that disrupts the P-box primary DNA-binding motif of SF1 and results in decreased target gene binding and transactivation (8, 10, 11). The second patient had a homozygous R92Q mutation that disrupts the A-box secondary DNA-binding motif of SF1, resulting in a variable and partial loss ...
... G35E mutation that disrupts the P-box primary DNA-binding motif of SF1 and results in decreased target gene binding and transactivation (8, 10, 11). The second patient had a homozygous R92Q mutation that disrupts the A-box secondary DNA-binding motif of SF1, resulting in a variable and partial loss ...
Case Report A Case of IFAP Syndrome with Severe Atopic Dermatitis
... lower limbs. A skin biopsy from left arm showed inflammatory neutrophilic infiltrate involving adventitial dermis and a hair follicle with small follicular abscess. A survey of infectious agents was negative. One month later, parents reported severe itching and persistent and exudative eczema of the ...
... lower limbs. A skin biopsy from left arm showed inflammatory neutrophilic infiltrate involving adventitial dermis and a hair follicle with small follicular abscess. A survey of infectious agents was negative. One month later, parents reported severe itching and persistent and exudative eczema of the ...
PDF. - Veterinary Sciences Tomorrow
... prevalence of the disease seems very low. The need for screening potential breeding animals could therefore be questioned. In the study described in reference [52], a large group of clinically healthy Saarloos and Czechoslovakian wolfdogs were screened for the mutation associated with pituitary dwar ...
... prevalence of the disease seems very low. The need for screening potential breeding animals could therefore be questioned. In the study described in reference [52], a large group of clinically healthy Saarloos and Czechoslovakian wolfdogs were screened for the mutation associated with pituitary dwar ...
A Case of Multiple Endocrine Neoplasia Type 1: A Rare Clinical Entity
... MEN syndromes, Von Hippel-Lindau disease1 and Carney ...
... MEN syndromes, Von Hippel-Lindau disease1 and Carney ...
A4339 Age Male Vol 5 No 2.vp
... mounting population of males over the age of 50 years. This population will be positioned for special health needs in the first quarter of this century and probably beyond. Among these needs, hormone replacement therapy will find its proper place, as it has for postmenopausal women over the last 25 ...
... mounting population of males over the age of 50 years. This population will be positioned for special health needs in the first quarter of this century and probably beyond. Among these needs, hormone replacement therapy will find its proper place, as it has for postmenopausal women over the last 25 ...
Society for Endocrinology UK guidance on the initial evaluation of
... ongoing management. The consensus reached in Chicago in 2005 on the general principles of managing patients with DSD represented a historic milestone for international and multidisciplinary collaboration in this area.2,3 Some areas of care, such as the initial approach to evaluating the infant or yo ...
... ongoing management. The consensus reached in Chicago in 2005 on the general principles of managing patients with DSD represented a historic milestone for international and multidisciplinary collaboration in this area.2,3 Some areas of care, such as the initial approach to evaluating the infant or yo ...
Cyclopes and Giants: From Homer`s Odyssey to contemporary
... of gigantism and bitemporal hemianopia is theoretically feasible in NF1. However, the possibility of this being a consistent finding in a whole series/family of patients is extremely small, given that in NF1 optic gliomas can occur in any part of the optic pathway and those affecting the chiasm are ...
... of gigantism and bitemporal hemianopia is theoretically feasible in NF1. However, the possibility of this being a consistent finding in a whole series/family of patients is extremely small, given that in NF1 optic gliomas can occur in any part of the optic pathway and those affecting the chiasm are ...
PDF
... of gigantism and bitemporal hemianopia is theoretically feasible in NF1. However, the possibility of this being a consistent finding in a whole series/family of patients is extremely small, given that in NF1 optic gliomas can occur in any part of the optic pathway and those affecting the chiasm are ...
... of gigantism and bitemporal hemianopia is theoretically feasible in NF1. However, the possibility of this being a consistent finding in a whole series/family of patients is extremely small, given that in NF1 optic gliomas can occur in any part of the optic pathway and those affecting the chiasm are ...
Resistance to thyroid hormone due to defective thyroid receptor alpha
... recruit a corepressor complex (CoR) including histone deacetylase (HDAC), which acts to inhibit gene transcription (Panel A). Receptor occupancy by T3 (Panel B) promotes dissociation of the corepressor complex and recruitment of a coactivator complex (CoA), mediating activation of target gene transc ...
... recruit a corepressor complex (CoR) including histone deacetylase (HDAC), which acts to inhibit gene transcription (Panel A). Receptor occupancy by T3 (Panel B) promotes dissociation of the corepressor complex and recruitment of a coactivator complex (CoA), mediating activation of target gene transc ...
G protein-coupled receptors: mutations and endocrine diseases
... Abstract | Over the past 20 years, naturally occurring mutations that affect G protein-coupled receptors (GPCRs) have been identified, mainly in patients with endocrine diseases. The study of loss-of-function or gain-of-function mutations has contributed to our understanding of the pathophysiology o ...
... Abstract | Over the past 20 years, naturally occurring mutations that affect G protein-coupled receptors (GPCRs) have been identified, mainly in patients with endocrine diseases. The study of loss-of-function or gain-of-function mutations has contributed to our understanding of the pathophysiology o ...
The etiology of congenital nephrotic syndrome
... identified further. At present, no causal relationship between these pathogens and CNS has been established. As the kidney is the major organ of the excretory system, it is reasonable that many pathogens can be detected in the renal tubular lumen, tubular epithelial cell body, and especially in the ...
... identified further. At present, no causal relationship between these pathogens and CNS has been established. As the kidney is the major organ of the excretory system, it is reasonable that many pathogens can be detected in the renal tubular lumen, tubular epithelial cell body, and especially in the ...
is Pro12Ala polymorphism of the PPAR
... The findings suggested that the two studied groups (PCOS and control) show no significant statistical differences regarding the genotype and allele frequencies of the Pro12Ala polymorphism of the PPAR-γ gene. Previous reports in other populations of PCOS women sustain our conclusions (12, 13). In a ...
... The findings suggested that the two studied groups (PCOS and control) show no significant statistical differences regarding the genotype and allele frequencies of the Pro12Ala polymorphism of the PPAR-γ gene. Previous reports in other populations of PCOS women sustain our conclusions (12, 13). In a ...
ICD-9-CM/ICD-10-CM Crosswalk for Adult Male
... Use additional code for adverse effect, if applicable, to identify drug (T36-T50 with 5th or 6th character 5) E29.8 Other testicular dysfunction E29.9 Testicular dysfunction, unspecified E34.50 Androgen insensitivity syndrome, unspecified E34.51 Complete androgen insensitivity syndrome E34.52 Partia ...
... Use additional code for adverse effect, if applicable, to identify drug (T36-T50 with 5th or 6th character 5) E29.8 Other testicular dysfunction E29.9 Testicular dysfunction, unspecified E34.50 Androgen insensitivity syndrome, unspecified E34.51 Complete androgen insensitivity syndrome E34.52 Partia ...
AR THR and
... amounts of thyroid hormone. Most children are normal at birth, because maternal thyroid hormones are transported across the placenta during gestation. What is absolutely critical is to identify and treat this condition very shortly after birth. If not, the child will become permanently mentally and ...
... amounts of thyroid hormone. Most children are normal at birth, because maternal thyroid hormones are transported across the placenta during gestation. What is absolutely critical is to identify and treat this condition very shortly after birth. If not, the child will become permanently mentally and ...
Social and developmental influences on urinary androgen levels in
... reproductive development in male marmosets, we monitored urinary androgen (uA) excretion in males housed in a captive colony of white-faced marmosets (Callithrix geoffroyi). Young male marmosets showed relatively low and stable rates of uA excretion early in life, with elevated production at the end ...
... reproductive development in male marmosets, we monitored urinary androgen (uA) excretion in males housed in a captive colony of white-faced marmosets (Callithrix geoffroyi). Young male marmosets showed relatively low and stable rates of uA excretion early in life, with elevated production at the end ...
A clinical approach to women with hirsutism
... subjective and can be influenced by the prevailing societal norms about hairiness and ethnic and cultural background. Although hirsutism is often a clinical manifestation of androgen hyperfuntion, it does not always indicate an underlying endocrinological problem. True hirsutism should always be dif ...
... subjective and can be influenced by the prevailing societal norms about hairiness and ethnic and cultural background. Although hirsutism is often a clinical manifestation of androgen hyperfuntion, it does not always indicate an underlying endocrinological problem. True hirsutism should always be dif ...
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.