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CAH due to 21-hydroxylase deficiency is the most common cause of ambiguous genitalia in genotypically normal female infants (46XX). Less severely affected females may present with early pubarche. Young women may present with symptoms of polycystic ovarian syndrome (oligomenorrhea, polycystic ovaries, hirsutism). [medical citation needed]
Hyperandrogenism is a medical condition characterized by high levels of androgens.It is more common in women than men. [4] Symptoms of hyperandrogenism may include acne, seborrhea, hair loss on the scalp, increased body or facial hair, and infrequent or absent menstruation.
Persons with a complete androgen insensitivity have a typical female external phenotype, despite having a 46,XY karyotype. [16] [17]Individuals with complete androgen insensitivity syndrome (grades 6 and 7 on the Quigley scale) are born with an external female phenotype, without any signs of genital masculinization, despite having a 46,XY karyotype. [18]
It is unclear what concentration of adrenal androgens is best for normal growth, puberty, and bone health. [221] One of the challenging aspects of long-term management is optimizing growth so that a child with CAH achieves his or her height potential because both undertreatment and overtreatment can reduce growth or the remaining time for growth.
The earliest known diagnosis was in a 6 month old female who developed pubic hair. [46] Additional symptoms include acne, menstrual irregularities and hirsutism in females as well as alopecia in males. LOCAH is often misdiagnosed as polycystic ovarian disease (PCOS). [47] LOCAH is often diagnosed in the context of infertility assessment in women.
These androgens produce effects that are similar to those of 21-hydroxylase deficient CAH. In the severe forms, XX (genetically female) fetuses can be markedly virilized, with ambiguous genitalia that look more male than female, though internal female organs, including ovaries and uterus develop normally.
Discrimination based on facial hirsutism often leads to the avoidance of social situations and to symptoms of anxiety and depression. [6] Hirsutism is usually the result of an underlying endocrine imbalance, which may be adrenal, ovarian, or central. [7] It can be caused by increased levels of androgen hormones.
Lipoid congenital adrenal hyperplasia is an endocrine disorder that is an uncommon and potentially lethal form of congenital adrenal hyperplasia (CAH). It arises from defects in the earliest stages of steroid hormone synthesis: the transport of cholesterol into the mitochondria and the conversion of cholesterol to pregnenolone—the first step in the synthesis of all steroid hormones.