Update on clinical screening of maturity-onset diabetes of the young (MODY)

Table 4 Morphological and functional alterations associated with HNF1B mutations (listed alphabetically)

Phenotype	References
Asthenospermia, bilateral epidydimal cysts, atresia of vas deferens, ovarian carcinoma	[57, 107]
Bicornuate uterus	[57, 107,108,109]
Chromophobe renal cell carcinoma	[8]
Cortical atrophy, interstitial fibrosis, enlarged glomeruli, glomerular cysts	[107, 110]
Cryptorchidism, varicocele	[57]
Cystic kidney disease	[8, 108,109,110,111,112,113,114]
Familial juvenile hyperuricemic nephropathy	[115]
Glomerulocystic kidney disease	[56, 113, 114, 116]
Horseshoe kidney	[113]
Hypomagnesemia	[57]
Hypospadia	[109]
Hyposthenuria and poor urinary concentrating ability	[112]
Hyperuricemia and Gout	[117]
Kidney agenesis	[107, 109]
Liver dysfunction	[57, 118, 119]
Liver imaging abnormalities (nonspecific, biliary cysts, abnormal biliary ducts)	[57]
Liver biopsy abnormalities	[57]
Mayer-Rokitanski syndrome	[57]
Mild to moderate renal failure with creatinine clearance	[57, 110, 111, 113, 120]
Neonatal cholestasis	[119]
Oligomeganephronia	[107, 114, 120]
Pancreas atrophy	[57, 107]
Pancreas calcifications, pancreas divisum, ring pancreas, malrotation, intraductal papillary mucinous tumor	[57]
Renal dysplasia	[109, 113, 114]
Renal hypoplasia	[112, 118]
Subclinical pancreas exocrine insufficiency	[57, 107]
Vaginal aplasia, rudimentary uterus	[108, 120]

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