21-hydroxylase deficiency physical examination
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Mehrian Jafarizade, M.D [2]
Overview
Patients with 21-hydroxylase deficient congenital adrenal hyperplasia usually appear underweight and dehydrated. Physical examination is usually remarkable for hypotension and virilization.
Physical Examination
Common physical examination findings of 21-hydroxylase deficient congenital adrenal hyperplasia include:[1][2][3][4]ref name="pmid128359722">Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ (2003). "Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features". Eur Radiol. 13 (7): 1597–603. doi:10.1007/s00330-002-1786-3. PMID 12835972.</ref><
Appearance
- Classic salt wasting type: infants will be both underweight and dehydrated.
- Children before puberty will have tall stature, increased muscle mass, acne, and adult body odor.
Vitals
- Classic salt wasting type: hypotension
Head
- Hirsutism
- Alopecia
- Deep voice
- Acne
Genitals
- Female in classic type:
- Genital ambiguity
- Labial fusion
- Female in non-classic type:
- Clitoromegaly
- Primary amenorrhea
- Menstrual irregularity in young women
- Male in classic type:
- Penile enlargement
- Testicular mass
- Hyperpigmentation of the scrotum
- Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor).
- Male in non-classic type:
- Normal appearing at birth.
Cognitive function:
- Female:
- Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks)
- Cross-gender role behavior
- lower intelligence quotients (IQ)
References
- ↑ White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.
- ↑ van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889.
- ↑ Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH (2001). "Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis". J Pediatr. 138 (1): 26–32. doi:10.1067/mpd.2001.110527. PMID 11148508.
- ↑ Zucker KJ, Bradley SJ, Oliver G, Blake J, Fleming S, Hood J (1996). "Psychosexual development of women with congenital adrenal hyperplasia". Horm Behav. 30 (4): 300–18. doi:10.1006/hbeh.1996.0038. PMID 9047259.