Four novel mutations in deficiency of coagulation factor XIII:
... ONGENITAL factor XI11 (FXIII) deficiency is a rare bleeding disorder that is inherited inan autosomal recessive manner. Deficiency in FXIII leads to a bleeding diathesis that is characterized by delayed hemorrhages in soft tissues after initially successful primary clot formation. In addition to sub ...
... ONGENITAL factor XI11 (FXIII) deficiency is a rare bleeding disorder that is inherited inan autosomal recessive manner. Deficiency in FXIII leads to a bleeding diathesis that is characterized by delayed hemorrhages in soft tissues after initially successful primary clot formation. In addition to sub ...
Resistance to Thyroid Hormone and Down Syndrome: Coincidental
... whose dosage could be altered resulting in RTH. Thus, DS patients have a high prevalence of autoantibodies regarded as unique for autoimmune polyendocrine ...
... whose dosage could be altered resulting in RTH. Thus, DS patients have a high prevalence of autoantibodies regarded as unique for autoimmune polyendocrine ...
Animal Models of Pediatric Combined Pituitary
... pituitary and nervous system development in mammals. Through in vitro and in vivo experimentation, we have elucidated roles for LHX3 in pituitary development. At least two mRNAs are transcribed from the LHX3 gene from which three protein isoforms are translated (LHX3a, LHX3b, and M2-LHX3), each with ...
... pituitary and nervous system development in mammals. Through in vitro and in vivo experimentation, we have elucidated roles for LHX3 in pituitary development. At least two mRNAs are transcribed from the LHX3 gene from which three protein isoforms are translated (LHX3a, LHX3b, and M2-LHX3), each with ...
16) Clifton-Bligh RJ, de Zegher F, Wagner RL, Collingwood TN
... In this context, the report by Demir and colleagues in the current issue of JCEM (12), describing three ...
... In this context, the report by Demir and colleagues in the current issue of JCEM (12), describing three ...
Endocrine Disorders in the Neonatal Period
... early as 10 weeks gestation, testosterone is released from the Leydig cells in the testes to help form (along with dihydrotestosterone [DHT]) the male reproductive tissues and external genitalia. Early during gestation, human chorionic gonadotropin (hCG) from the placenta is responsible for testoste ...
... early as 10 weeks gestation, testosterone is released from the Leydig cells in the testes to help form (along with dihydrotestosterone [DHT]) the male reproductive tissues and external genitalia. Early during gestation, human chorionic gonadotropin (hCG) from the placenta is responsible for testoste ...
Endocrinology
... 2 year old girl with breast development. No growth acceleration. No bone age advancement No detectable estradiol, LH or FSH The most likely diagnosis is: ...
... 2 year old girl with breast development. No growth acceleration. No bone age advancement No detectable estradiol, LH or FSH The most likely diagnosis is: ...
Technical report Development of a multiplex ARMS test for
... the measurement of serum transferrin saturation and ferritin concentrations, with subsequent liver biopsy to determine hepatic iron deposition or quantitative phlebotomy to estimate iron overload, the identification of mutations in HFE now oVers the possibility of a presymptomatic screen for genetic ...
... the measurement of serum transferrin saturation and ferritin concentrations, with subsequent liver biopsy to determine hepatic iron deposition or quantitative phlebotomy to estimate iron overload, the identification of mutations in HFE now oVers the possibility of a presymptomatic screen for genetic ...
Endocrinology
... • Two major forms: – asymptomatic individuals with generalized resistance (GRTH) – patients with thyrotoxicosis features, suggesting predominant pituitary resistance (PRTH) ...
... • Two major forms: – asymptomatic individuals with generalized resistance (GRTH) – patients with thyrotoxicosis features, suggesting predominant pituitary resistance (PRTH) ...
Amenorrhea
... C-BREAST PRESENT , UTERUS ABSENT 1-Testicular feminization/ Androgen insensitivity XY Karotype produce MIF Mullerian structures are absent Complete/ Partial absence of androgen receptors X linked recessive or dominant Female external genitalia with Short blind vagina Testosterone normal ♂ ran ...
... C-BREAST PRESENT , UTERUS ABSENT 1-Testicular feminization/ Androgen insensitivity XY Karotype produce MIF Mullerian structures are absent Complete/ Partial absence of androgen receptors X linked recessive or dominant Female external genitalia with Short blind vagina Testosterone normal ♂ ran ...
Autoinflammatory Syndromes
... Some HIDS patients (known mutations in MVK) have normal serum IgD. Some patients with HIDS phenotype have high IgD and do NOT have demonstrable MVK mutations - “variant HIDS”. Some patients with other genetically proven autoinflammatory syndromes have moderately IgD. ...
... Some HIDS patients (known mutations in MVK) have normal serum IgD. Some patients with HIDS phenotype have high IgD and do NOT have demonstrable MVK mutations - “variant HIDS”. Some patients with other genetically proven autoinflammatory syndromes have moderately IgD. ...
Endocrinology - American Academy of Pediatrics
... 2 year old girl with breast development. No growth acceleration. No bone age advancement No detectable estradiol, LH or FSH The most likely diagnosis is: ...
... 2 year old girl with breast development. No growth acceleration. No bone age advancement No detectable estradiol, LH or FSH The most likely diagnosis is: ...
Cancer Prone Disease Section Multiple endocrine neoplasia type 2 (MEN2)
... of 1072 to 1114 aminoacids. There is a cleavable signal sequence of 28 aminoacids, a glycosylated extracellular domain formed of a region of cadherin homology and another cystein-rich region, a transmembrane domain and an intracellular tyrosine kinase domain. Expression: RET is expressed predominant ...
... of 1072 to 1114 aminoacids. There is a cleavable signal sequence of 28 aminoacids, a glycosylated extracellular domain formed of a region of cadherin homology and another cystein-rich region, a transmembrane domain and an intracellular tyrosine kinase domain. Expression: RET is expressed predominant ...
HERE
... make males. 2. By 12 weeks after conception a process of masculinization is occurs i. Synthesis of H-Y antigen (about 6 weeks) leads to the synthesis of testosterone, which activates the Wolffian system & Mullierian Inhibiting Substance which blocks further development of the female system **Materna ...
... make males. 2. By 12 weeks after conception a process of masculinization is occurs i. Synthesis of H-Y antigen (about 6 weeks) leads to the synthesis of testosterone, which activates the Wolffian system & Mullierian Inhibiting Substance which blocks further development of the female system **Materna ...
Multiple Endocrine Neoplasia Type 4
... inheritance observed in MENX rats. Upon sequencing of the Cdkn1b gene in affected and unaffected littermates, a tandem duplication of eight nucleotides in exon 2 (c.520–528dupTTCAGAC; RefSeq: NM_031762.3), which causes a frameshift, was identified in all the affected rats. The mutated allele enco ...
... inheritance observed in MENX rats. Upon sequencing of the Cdkn1b gene in affected and unaffected littermates, a tandem duplication of eight nucleotides in exon 2 (c.520–528dupTTCAGAC; RefSeq: NM_031762.3), which causes a frameshift, was identified in all the affected rats. The mutated allele enco ...
Next Generation Sequencing Panel for Hypoparathyroidism
... families with autosomal dominant hypocalcemia(12-14). In families where multiple generations were affected, these mutations segregated with disease. Nesbit, et al reported one in-frame deletion and one missense GNA11 mutation in two unrelated families with hypocalciuric hypercalcemia. These patients ...
... families with autosomal dominant hypocalcemia(12-14). In families where multiple generations were affected, these mutations segregated with disease. Nesbit, et al reported one in-frame deletion and one missense GNA11 mutation in two unrelated families with hypocalciuric hypercalcemia. These patients ...
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis
... females with Swyer syndrome required close follow up because of the high risk of neoplastic transformation in the dysgenetic gonads. In this case, after estrogen therapy patient had her first menstruation cycle but menstruation was disappeared when she stopped pills and the histopathology report als ...
... females with Swyer syndrome required close follow up because of the high risk of neoplastic transformation in the dysgenetic gonads. In this case, after estrogen therapy patient had her first menstruation cycle but menstruation was disappeared when she stopped pills and the histopathology report als ...
Evaluation and Management of Primary Amenorrhea Libby Crockett, MD
... • Add progesterone in order for regular menstruation. ...
... • Add progesterone in order for regular menstruation. ...
- Fertility and Sterility
... well-being is a topic of growing interest and concern, although controversy exists concerning the existence of androgen deficiency states and their clinical diagnosis or management. An international consensus conference on androgen deficiency in women was convened in Princeton, New Jersey, on June 2 ...
... well-being is a topic of growing interest and concern, although controversy exists concerning the existence of androgen deficiency states and their clinical diagnosis or management. An international consensus conference on androgen deficiency in women was convened in Princeton, New Jersey, on June 2 ...
A novel activating mutation (C129S) in the calcium-sensing
... of the parents and the brother of the proband (Fig. 1B) with enzyme-based and direct sequence analysis revealed that this mutation had occurred in the proband de novo. We did not find this mutation in 100 alleles in 50 healthy volunteers without hypocalcemia. In addition, this nucleotide change did ...
... of the parents and the brother of the proband (Fig. 1B) with enzyme-based and direct sequence analysis revealed that this mutation had occurred in the proband de novo. We did not find this mutation in 100 alleles in 50 healthy volunteers without hypocalcemia. In addition, this nucleotide change did ...
Perrault Syndrome – A Rare Case Report
... Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfanoid habitus and central nervous system findings hav ...
... Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfanoid habitus and central nervous system findings hav ...
Saudi Medical Journal
... propionate incorporation assays, and complementation analysis.1,2 Compared to most patients with MMA from different ethnicities who are compound heterozygous, our 2 patients were homozygous for MUT gene mutation.1,4 This is not surprising as both parents are first cousins. Also, the prevalence of co ...
... propionate incorporation assays, and complementation analysis.1,2 Compared to most patients with MMA from different ethnicities who are compound heterozygous, our 2 patients were homozygous for MUT gene mutation.1,4 This is not surprising as both parents are first cousins. Also, the prevalence of co ...
CLINICAL REVIEW 148 Monogenic Disorders of Puberty - e
... Only a 28-yr-old affected man has been reported thus far, with normal onset of puberty, tall stature, markedly delayed skeletal maturation and osteoporosis; autosomal recessive mode of inheritance AIS: the phenotypic spectrum of affected 46,XY individuals ranges from a completely female phenotype (m ...
... Only a 28-yr-old affected man has been reported thus far, with normal onset of puberty, tall stature, markedly delayed skeletal maturation and osteoporosis; autosomal recessive mode of inheritance AIS: the phenotypic spectrum of affected 46,XY individuals ranges from a completely female phenotype (m ...
Sex Hormones
... The hypothalamus has neurons that are estrogen sensitive, they bind to estrogen. If testosterone is present, these cells become insensitive to estrogen. Conversely, if estrogen is present, these cells become sensitive to estrogen. This difference is crucial for the hormonal feedback loops in the hyp ...
... The hypothalamus has neurons that are estrogen sensitive, they bind to estrogen. If testosterone is present, these cells become insensitive to estrogen. Conversely, if estrogen is present, these cells become sensitive to estrogen. This difference is crucial for the hormonal feedback loops in the hyp ...
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.