Adrenocortical Hypofunction, Chronic Primary Congenital

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

AIRE, CLEC16A, CIITA, ABCD1, ND6, TRNS2, TRNS1, TRNQ, TRNL1, TRNH, ND4, ND5, PEX1, ND1, MTHFR, COX3, COX2, COX1, TRNW, NR0B1, PEX6, PEX3, VANGL2, PEX26, MRPS7, TCTN3, PEX16, PEX11B, PEX5, HSD17B4

AIRE, CLEC16A, CIITA, ABCD1, ND6, TRNS2, TRNS1, TRNQ, TRNL1, TRNH, ND4, ND5, PEX1, ND1, MTHFR, COX3, COX2, COX1, TRNW, NR0B1, PEX6, PEX3, VANGL2, PEX26, MRPS7, TCTN3, PEX16, PEX11B, PEX5, HSD17B4, PEX2, PEX19, POMC, PEX14, PEX13, PEX12, PEX10, TRNF, HLA-DRB1, GLI3, RBM45, HLA-DQA1, NUDT10, NR3C1, CRH, HT, REN, PTPN22, MICA, STAR, CTLA4, NR5A1, TPO, SGPL1, VDR, TNF, NUDT11, CYP21A2, IFIH1, PRL, CYP11A1, HLA-DQB1, HLA-DQA2, MC2R, HLA-DOA, HLA-B, INS, GLUL, UGT2B28, CD14, NNT, VPS51, IL22, FOXP3, KLK3, SAMD9, SH2B2, ANGPT2, POLR3B, ANGPT1, BACH2, CXCL10, IL15, IL6, IL2RA, SUMO4, WG, CD226, CDKN1C, NCR1, GCG, GAD2, GNAO1, FGD1, FCGR3A, DDC, POLE, CYP27B1, GNAS, PROP1, GSTT1, ADAM3A, IFNA4, GZMB, CCL2, STAT4, TM7SF2, HLA-DPB1, HLA-DQB2, HSD11B1, HSPA4

Drugs

Adeno-associated viral vector expressing human 21-hydroxylase, Autologous haematopoietic stem cells transduced with lentiviral vector Lenti-D encoding the human ABCD1 cDNA, Crinecerfont

Adeno-associated viral vector expressing human 21-hydroxylase, Autologous haematopoietic stem cells transduced with lentiviral vector Lenti-D encoding the human ABCD1 cDNA, Crinecerfont, Hydrocortisone ( ALKINDI ), Hydrocortisone (modified release tablet) ( PLENADREN ), Hydroxypioglitazone, Nevanimibe, Pioglitazone, Prasterone, Pyrazolo[1,5-a]pyrimidine, 3-[4-chloro-2-(4-morpholinyl)-5-thiazolyl]-7-(1-ethylpropyl)-2,5-dimethyl-pyrazolo[1,3-a]pyrimidine, Recombinant human parathyroid hormone ( NATPAR, NATPARA ), Temsirolimus ( TORISEL ), Teriparatide, verucerfont

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Chuandi et al. (1985) reported a Chinese kindred in which persons in 3 generations, and by implication at least 1 person in a fourth earlier generation, had chronic adrenal insufficiency. This was manifest by hyperpigmentation, hypernatriuria, hypokaliuria, and decreased plasma total cortisol and urine free cortisol; PTC, UFC and 17-OHCS did not respond to ACTH stimulation. Eleven affected persons in 5 sibships were identified, including several instances of male-to-male transmission.