POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: 46, XY Disorders of Sex Development ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		0.010 Biomarker group BEFREE The slightly elevated ACTH basal levels in all three patients with 46,XY DSD and the subnormal cortisol response after 1 mcg ACTH stimulation in the older sib indicate that a long-term follow-up for adrenal function is important for these patients. 24405868 2014