Table 1.

Developmental history, clinical history, and physical examination findings in the three cases.

Features	Case 1	Case 2	Case 3
Development
Gender	Female	Male	Male
Current age	21 years	25 years	32 years
Parents	Reportedly unrelated	Not related	First cousin consanguineous
Birth weight	1520 g (−4.4 SDS)	2450 g (−3.2 SDS)	1800 g (−2.8 SDS)
Birth length	39 cm (−5.5 SDS)	NR	45 cm (−3.0 SDS)
Birth OFC	31 cm (−2.4 SDS)	NR	33 cm (−1.2 SDS)
Psychomotor development	Normal	Normal	Delayed
Linear growth	Severe growth failure. Adult height 120 cm (−6.6 SDS)	Severe growth failure. Adult height 127 cm (−7.2 SDS)	Severe growth failure. Adult height 138 cm (−5.8 SDS)
Clinical observations
Insulin resistance	Insulin resistance which progressed to type 2 diabetes	Insulin resistance with reactive hypoglycaemia	Insulin resistance which progressed to type 2 diabetes
Hypertension	Present, treated	NR	Absent
Hyperlipidaemia	Diagnosed at 11 years	Diagnosed at 22 years	Diagnosed at 22 years
Ophthalmological assessment	Astigmatism	NR	Mild non-proliferative diabetic retinopathy
Pubertal development	Tanner B2 at 9.8 years, menarche at 15.3 years	Tanner G2 at 11 years; G3 (testes 8 mL) at 13.5 years	Absent (G1 at 21 years), gynaecomastia
Muscle cramps	Onset aged 2 years	Onset aged 13 years	Onset aged 22 years
Alopecia	Present	Present	Present
Centripetal obesity	Absent (waist circumference 72 cm)	Present	Present
Acanthosis Nigricans	Present from 10.1 years	Present from 13.5 years	Present from 21 years
Hypotonia	NR	NR	Present
High pitched voice	Present	Present	Absent
Adult gonadal status	Partial ovarian failure	NR	Borderline low plasma testosterone
Laboratory
Insulin	Increased	Increased	Increased
Creatine Kinase	Increased	Increased	Increased
Additional findings
Empty sella turcica	NR	NR	Present
Diffuse fatty liver	Present	Present	Present
Kidney anatomy	Normal kidney ultrasonography	NR	Left ectopic kidney
Electromyography	Reduced recruitment of MUAPs firing at increased frequency with increased amplitude, polyphasic potentials. Spontaneous fasciculations.	NR	Rare fibrillations and positive sharp waves. Normal MUAPs, morphology and recruitments. Muscular cramps induced by leg exercise accompanied by fasciculation
Colonoscopy	NR	NR	Transverse colon polyp, no dysplasia or malignancy

MUAPs, motor unit action potentials; NR, not reported; OFC, occipitofrontal circumference; SDS, standard deviation score.