Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency and Disorders of sex development

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Difference between Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency and Disorders of sex development

Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency vs. Disorders of sex development

Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene CYP17A1, which encodes for the enzyme 17α-hydroxylase. Disorders of sex development (DSD), sometimes referred to as disorders of sex differentiation or differences of sex development, are medical conditions involving the reproductive system.

Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is an intersex condition in which there is a partial or complete inability of many cells in the affected genetic male to respond to androgenic hormones.

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Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis).

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Gynecomastia

Gynecomastia is an endocrine system disorder in which a noncancerous increase in the size of male breast tissue occurs.

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Hypospadias

Hypospadias is a congenital disorder of the urethra where the urinary opening is not at the usual location on the head of the penis.

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Intersex

Intersex people are born with any of several variations in sex characteristics including chromosomes, gonads, sex hormones, or genitals that, according to the UN Office of the High Commissioner for Human Rights, "do not fit the typical definitions for male or female bodies".

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Isolated 17,20-lyase deficiency

Isolated 17,20-lyase deficiency (ILD), also called isolated 17,20-desmolase deficiency, is a rare endocrine and autosomal recessive genetic disorder which is characterized by a complete or partial loss of 17,20-lyase activity and, in turn, impaired production of the androgen and estrogen sex steroids.

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Pregnenolone

Pregnenolone (P5), or pregn-5-en-3β-ol-20-one, is an endogenous steroid and precursor/metabolic intermediate in the biosynthesis of most of the steroid hormones, including the progestogens, androgens, estrogens, glucocorticoids, and mineralocorticoids.

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Pseudohermaphroditism

Pseudohermaphroditism, or pseudo-hermaphroditism, is an old clinical term for an organism that is born with primary sex characteristics of one sex but develops the secondary sex characteristics that are different from what would be expected on the basis of the gonadal tissue (ovary or testis).

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Puberty

Puberty is the process of physical changes through which a child's body matures into an adult body capable of sexual reproduction.

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Testosterone

Testosterone is the primary male sex hormone and an anabolic steroid.

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