78
Table 4.5 Clinical features and genetic causes in congenital adrenal hyperplasia
Enzyme deficiency
Gene
Hormonal profile
Treatment
References
21-hydroxylase deficiency
CYP21A2
• High level of 17OHP, 21-deoxycortisol, and
rostenedione and renin
• Low level of Cortisol and aldosterone
• Suppression of elevated adrenal steroids after
glucocorticoid administration
Sodium-chloride supplementation
Vaginoplasty and clitoral recession or
clitoroplasty with preservation of
neurovascular bundle in female DSD
Glucocorticoid- administration
[42]
11β-hydroxylase deficiency
CYP11B1
• High level of DOC, 11-deoxycortisol, and
rostenedione
• Low level of aldosterone, corticosterone
Glucocorticoid- administration
Vaginoplasty and clitoral recession or
clitoroplasty with preservation of
Neurovascular bundle in female DSD
17α-hydroxylase/ 17,20-lyase
deficiency
CYP17
• High level of DOC, progesterone and
corticosterone
• Low level of Cortisol 17OHP, renin,
androstenedione and DHEA
Glucocorticoid- administration
Surgical correction of genitalia and sex
hormone replacement in male DSD
consonant with sex of rearing sex hormone
replacement in females
[40]
3β-hydroxysteroid
dehydrogenase type 2
deficiency
HSD3B2
• High level of DHEA, 17-hydroxypregnenolone
and renin
• Low level of progesterone, 11-deoxycortisol,
androstenedione and Cortisol
Glucocorticoid- administration
Sodium-chloride supplementation
P450 oxidoreductase
deficiency
POR
• High level of Progesterone, DOC,
corticosterone and Pregnenolone
• Low level of androstenedione and DHEA
Glucocorticoid- administration
[43]
Lipoid congenital adrenal
hyperplasia or SCC enzyme
deficiency
StAR
• High level of Renin
• Low level of All steroids
Gonadectomy of male DSD sex hormone
replacement consonant with sex of rearing
M. Shahid et al.