Final answer:
17alpha-hydroxylase deficiency causes ambiguous genitalia, hypertension due to excess mineralocorticoids, and hypoaldosteronism affecting electrolyte balance. These are essential indicators of this genetic disorder, which also hampers normal puberty progression.
Step-by-step explanation:
Symptoms of 17alpha-hydroxylase Deficiency
17alpha-hydroxylase deficiency is a rare genetic disorder impacting steroid biosynthesis. It affects both the sex steroids and the cortisol production in the adrenal gland. Here are three symptoms associated with the deficiency:
- Ambiguous genitalia or underdeveloped secondary sexual characteristics, which depend on the gender and genetic sex of the individual affected.
- Hypertension due to excess production of mineralocorticoids as a compensatory mechanism for the lack of cortisol.
- Hypoaldosteronism, which can contribute to an imbalance in electrolytes such as sodium and potassium in the body.
The deficiency can also lead to absent puberty or a lack of normal puberty progression. Due to the reduced or absent production of sex steroids, individuals with this condition might need hormone replacement therapy.