User:Alteripse/workshop2

From Wikipedia, the free encyclopedia

autosomal recessive, autosome, autosomal, recessive, inheritance, mendelian inheritance, genetics, dominant, autosomal dominant, sex-linked, sex-linked dominant, sex-linked recessive, homozygous, homozygote, heterozygous, heterozygote, XX, XY, 46,XX, 46,XY, 46, XX, 46, XY,

Leydig cell, sperm, spermatogonium, sertoli cell, wolffian duct, mullerian duct, mullerian inhibiting factor, mullerian inhibiting hormone,antimullerian hormone, müllerian duct, endocrine disruptor

theca, theca cell, granulosa, granulosa cell, follicle

5-alpha-reductase deficiency, true hermaphroditism, hermaphroditism, hermaphrodite, pseudohermaphroditism, gonadal dysgenesis, mixed gonadal dysgenesis, testicular dysgenesis

inborn error of metabolism, inborn errors of metabolism (RED), congenital metabolic disease, congenital metabolic disorder, fatty acid oxidation disorder, organic acidosis, organic aciduria, urine organic acids, disorder of organic acid metabolism, plasma amino acids, urine amino acids, amino acid disorder, disorder of amino acid metabolism, aminoacidopathy

intrauterine growth retardation, intrauterine growth restriction, body building, IGF1

• gonadotropin-releasing hormone, aromatase, leuprolide

• epiphyseal closure, growth evaluation, short stature, growth failure, constitutional delay, height, stature, failure to thrive

• developmental delay, mental retardation
• pediatric endocrinologist, pharmaceutical company, pharmacologic dose, physiologic dose, quality of life, standard of care, isoenzyme,

• reactive hypoglycemia

• medical test diagnostic test medical laboratory diagnosis

• nature versus nurture, nature and nurture, nature, nurture

[1] gck link Marseilles group

[2] ppt templates

The bifunctional enzyme performs two catalytic roles: as phosphofructokinase-2, it phosphorylates fructose-6-phosphate (F6P) to fructose-2,6-bisphosphate (F2,6P₂), while as fructose-2,6-bisphosphatase it dephosphorylates F2,6P₂ to F6P. Phosphorylation of the enzyme itself converts it from phosphofructokinase activity to phosphatase activity.

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CLASS/Name	property a	Enzyme(s)	Gene location	Substrate(s)	Product(s)
21-hydroxylase CAH	Mendelian Inheritance in Man (OMIM) 201910	P450c21	6p21.1	17OH-progesterone→ progesterone→	11-deoxycortisol DOC
lipoid CAH (20,22-desmolase)	Mendelian Inheritance in Man (OMIM) 201710	StAR P450scc	8p11.2 15q23-q24	transport of cholesterol cholesterol→	into mitochondria pregnenolone
17α-hydroxylase CAH	Mendelian Inheritance in Man (OMIM) 202110	P450c17	10q24.3	pregnenolone→ progesterone→ 17OH-pregnenolone→	17OH-pregnenolone 17OH-progesterone DHEA
3β-HSD CAH	Mendelian Inheritance in Man (OMIM) 201810	3βHSD II	1p13	pregnenolone→ 17OH-pregnenolone→ DHEA→	progesterone 17OH-progesterone androstenedione
11β-hydroxylase CAH	Mendelian Inheritance in Man (OMIM) 202010	P450c11β	8q21-22	11-deoxycortisol→ DOC→	cortisol corticosterone

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