Aetiology
- Children >6, CD is the most common cause
- Children <6 adrenal causes more
- Endogenous CS is extraordinarily rare before age 18
Genetic features
- Germline mutations in MEN1, RET, AIP, PRKAR1A, CDKN1B, DICER1, SDHx, and CABLES1 may all predispose children to CD
- Screening is usually reserved for cases in which there is either family history or other signs suggestive of a genetic syndrome
Clnical presentation
- Lack of height gain concomitant with weight gain (most common)
- Prevalence of
- Severe GHD (< 9 mU/L) 31%
- Partial GHD (<30 mU/L) 54%
Test for hypercortisolism
- 24-hour UFC
- LNSC
- Overnight 1 mg DST
- Not useful in children:
- Dex-CRH test
- IPSS
Treatment
- Surgical resection of the ACTH-secreting tumor
- First-line treatment.
- With successful treatment,
- Adrenal function typically recovers within approximately 12 months
- Obesity is not fully reversible.
- Post op monitoring
- Evaluation GHD
- Done by 3–6 months postoperatively
- Immediate GH replacement given if needed to ensure proper growth
- Medical therapy
- Ketoconazole
- Metyrapone
- Block-and-replace regimens
- Thromboprophylaxis should not be routinely used due to bleeding risk, but reserved for selected pediatric patients
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