Table 3.

Genetic diagnosis and biochemical profile following an overnight fast in patients with PROS.

ID	Sex	Age (years)	Syndrome	Site of overgrowth	B.M.I. (kg/m2) or *Z-score	Fat mass (%)	PIK3CA mutation	Glucose (mmol/L)	Insulin (pmol/L)	HbA1c (mmol/mol)	Adiponectin (mg/L)	Leptin (μg/L)	IGF1 (ng/mL)
NR								3.9–5.5	0–60	30–48	See legend	See legend	See legend
P4	M	48	CLOVES	L foot	26.7	13	C420R	4	11	40	23.2	ND	76
P5	M	29	CLOVES	L leg and trunk	25.7	23	E545K	4.5	27	34	3.8	5.7	163
P6	M	15	CLOVES	R thorax	−1.6*	19	E542K	6.2	165	ND	17.3	1.8	119
P7	F	37	FAH	Both legs	55	54	H1047L	3.9	13	36	16.9	166	141
P8	F	31	FAH	R arm	32.5	46	H1047L	4.7	ND	ND	ND	ND	221
P9	F	34	FAH	L leg	32.7	47	H1047R	4.7	217	43	1.5	45.5	141
P10	F	9	FAH	L leg	>+3*	29	H1047R	4.8	42	36	ND	ND	122
P11	F	22	MO	Both arms	21.9	32	H1047R	4.7	31	ND	6.3	6.6	242
P12	M	34	KTS	L leg	27.8	38	V346insK	4.3	29	38	ND	16	168
P13	F	40	MD	L hand	32.8	57	H1047R	4.5	73	37	ND	ND	ND
P14	F	39	MD	2 R fingers	25	40	M1043_N1044delinsIY	4.7	41	33	7.4	13.5	176
P15	F	35	MCAP	Diffuse	34.9	38	G118D	5.1	31	40	5.1	33.3	145
P16	M	29	MCAP	Diffuse	27.1	23	E81K	5.2	31	38	3.9	4.1	158
P17	F	18	MCAP	Diffuse	23.6	43	E81K	5.1	80	35	8.6	31.4	382
P18	F	21	MCAP	Diffuse	43	52	G914R	5.4	51	36	5.1	ND	85
P19	M	1.5	MCAP	Diffuse	ND	ND	R88Q	5.1	<3	48	ND	ND	<25
P20	M	21	MCAP	Diffuse	23.9	44	E726K	3.9	7	ND	6.6	2	28
P21	M	3	MCAP	Diffuse	+1*	43	R93Q	4.3	18	ND	ND	ND	60
P22	M	12	MCAP	Diffuse	ND	ND	D350G	3.9	<14	ND	ND	ND	80

BMI-specific reference ranges for adiponectin in females—<25 kg/m²: 4.4–17.7 mg/mL; 30–35 kg/m²: 2.6–14.9 mg/mL; >35 kg/m²: 2.6–17.1 mg/mL. Adiponectin reference in males—<25 kg/m²: 2.6–12.6 mg/mL; 25–30 kg/m²: 2.4–10.6 mg/mL. BMI-specific reference ranges for leptin in females—<25 kg/m²: 2.4–24.4 ng/mL; 25–30 kg/m²: 8.6–38.9 ng/mL; >35 kg/m²: 22.7–113.6 ng/mL. Leptin reference in males—<25 kg/m²: 0.4–8.3 ng/mL; 25–30 kg/m²: 1.5–13.0 ng/mL. Age-specific IGF-1 references ranges in females—9–11 years: 87–396 ng/mL; 16–20 years: 266–467 ng/mL; 21–24 years: 148–330 ng/mL; 25–40 years: 123–304 ng/mL. IGF-1 reference ranges in males—2–60 months: 27–113 ng/mL; 12–15 years: 115–495 ng/mL; 21–24 years: 186–397 ng/mL; 25–40 years: 124–300 ng/mL; 41–50 years: 89–239 ng/mL.

CLOVES, congenital lipomatous overgrowth with vascular, epidermal and skeletal anomalies; FAH, fibroadipose hyperplasia; KTS, Klippel–Trenaunay syndrome; MCAP, macrocephaly and capillary malformation syndrome; MD, macrodactyly; MO, muscle overgrowth; ND, not determined; NR, normal range.