Case report: Glycaemic management and pregnancy outcomes in a woman with an insulin receptor mutation, p.Met1180Lys

Table 3 INSR positive mutations, glycaemic control in pregnancy and birthweight

Reference	INSR location	Amino acid change	Age of presentation (years)	Maternal history of diabetes	Metformin in pregnancy, dose (g/day)	Third trimester insulin mean TDD (unit/kg)	Birthweight, gestation and centile, (kg and %)	Phenotype
Pedigree described in this case report	Exon 20	p.Met1180Lys	Early childhood	Yes	0	134 units/day	0.74, 26 weeks, 5th	HH
			Asymptomatic	Yes	2	83 units/day	2.87, 38 weeks, 40th
			Asymptomatic	Yes	2	71 units/day	3.24, 38 weeks, 66th	T1DM [8]
			Asymptomatic	Yes	2^a	111 units/day^a	2.2, 36⁺² weeks, twin
Sethi et al. [6]	Exon 20	p.Met1180Lys	Newborn	Yes	No	Doses unknown	2.41, 37 weeks, 18th	HH
		p.Met1180Lys	Newborn	Yes	No	No	2.43, 38 weeks, 6th	HH
		p.Arg1110Gln	Newborn	No	–	–	2.025, 36 weeks, twin	HH
		p.Arg1191Gln	Newborn	No	–	–	2.2, 37 weeks, 5th	HH
Enkhtuvshin et al. [5]	Exon 17	ΔLeu⁹⁹⁹	Newborn	Yes	0	480 units/day	2.2, 37 weeks, 5th	Transient HH
Enkhtuvshin et al. [5]	Exon 17	ΔLeu⁹⁹⁹	Newborn	Yes	2.5	150 units/day	2.5 kg, 38 weeks, 16th	Transient HH
Huang et al. [7]	Exon 20	p.Arg1174Trp	16	No	–	–	2.6 kg, 40 weeks, 5th	HH
Huang et al. [7]	Exon 20	p.Arg1174Trp	8	No	–	–	2.4 kg, twin	HH

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