Congenital adrenal hyperplasia history and symptoms

Congenital adrenal hyperplasia main page
Overview
Classification 21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Lipoid congenital adrenal hyperplasia
Differential Diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

History and Symptoms

• The virilization of neonates may be mild or as severe as 21-hydroxylase deficiencies. Hypertension and hypokalemia are present in 2/3 and help distinguish from 21-hydroxylase deficiencies.

  ●Boys present as neonates with a salt-losing adrenal crisis (hyponatremia, hyperkalemia, and failure to thrive) or as toddlers with signs of puberty (non-salt-losing form). Newborn males show no overt signs of CAH,

  Classic cases of congenital adrenal hyperplasia come in two forms: Baby girls with salt-wasting CAH may also have ambiguous genitalia or genitalia that looks male and female;

  baby boys may have enlarged penises. Classic cases of congenital adrenal hyperplasia come in two forms:

  salt-wasting CAH Baby girls with salt-wasting CAH may also have ambiguous genitalia or genitalia that looks male and female; baby boys may have enlarged penises. Either gender may develop masculine features before puberty.

  Salt-wasting CAH can lead to life-threatening cases of vomiting, weight loss and dehydration in a baby’s first few weeks of life

  .

  simple virilizing CAH. In cases of simple virilizing CAH, patients won’t have trouble maintaining salt in the body, but girls will have ambiguous genitalia and, either gender will develop masculine features before puberty. Growth — Children with CAH are at risk for early puberty and adult short stature high levels of sex hormones premature epiphyseal closure.[47] Female patients with classic CAH have more male-typical childhood play than unaffected girls [48,49] Adolescent and adult women with CAH may have greater aggressive tendencies than unaffected healthy women 53 neonates are at risk for cognitive impairment [57] Fertility rates in women are low [63] [64]: Hyperandrogenemia resulting in anovulatory cycles 67 [68]. Structural factors related to genital malformations may contribute to impaired reproductive self-image [69]. careful management with monitoring of androgen levels during gestation is indicated [71].

  Affected boys or young men may have no symptoms or signs of androgen excess.Testicular adrenal rest tumors, which are testicular masses composed of adrenal-like tissue, are common in male patients with 21-hydroxylase deficiency [76-78]. majority of adolescent and adult males with 21-hydroxylase deficiency have testicular adrenal rests ( [77,78,84]. They are more common in patients with the salt-losing form than the simple virilizing form, as the former tend to have poorer control and higher ACTH concentrations [85]. However, a correlation between ACTH levels and tumor growth is not always seen [76,77]. bilateral. They may lead to obstruction of seminiferous tubules and infertility. requires surgery for pain relief. Leydig cell failure or impaired spermatogenesis ,78, Fertility rates are related to the severity of the mutation [70] Plasma epinephrine and metanephrine concentrations and urinary epinephrine excretion lower than in normal subjects [89]

References

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