Table 2. Open in new tab Metabolic and...

Table 2.

Metabolic and Hormonal Data of Five Adult Women With DLK1 Defects

	Reference Values	Patient 1A	Patient 1B	Patient 3A	Patient 3B	Patient 4E^a
Glucose, mg/dL (nmol/L)	70–99 (3.9–5.5)	173 (9.6)	112 (6.2)	85 (4.7)	103 (5.7)	124 (6.9)
HbA1c, %	4.1–6.0	9.5	6.5	—	5.9	8.4
Insulin, μU/mL	2.6–24.9	—	51.6	—	13.6	21.1
Total cholesterol, mg/dL (mmol/L)	<190 (<4.9)	192 (5.0)	177 (4.6)	162 (4.2)	206 (5.3)	234 (6.1)
Triglycerides, mg/dL (mmol/L)	<150 (<1.7)	638 (7.2)	130 (1.5)	62 (0.7)	77 (0.9)	93 (1.0)
LDL, mg/dL (mmol/L)	<130 (<3.4)	—	111 (2.9)	86 (2.2)	106 (2.7)	170 (4.4)
HDL, mg/dL (mmol/L)	>40 (>1.0)	31 (0.8)	41 (1.1)	64 (1.7)	83 (2.2)	43 (1.1)
FSH, IU/L	3.5–12.5
FSH, IU/L	25.8–134.8^c	5.9	7.1	7.7	65.5	51.5
LH, IU/L	2.4–12.6	3.9	39.3	8.1	28.7	22.5
Testosterone, ng/dL (nmol/L)	20–49 y: ≤48 (1.7)  >50 y: ≤41 (1.4)	32 (1.1)^b	101 (3.5)	24 (0.8)	—	46 (1.6)
Androstenedione, ng/mL (nmol/L)	<2.2 (7.7)	—	3.4 (11.9)	—	—	0.75 (2.6)

	Reference Values	Patient 1A	Patient 1B	Patient 3A	Patient 3B	Patient 4E^a
Glucose, mg/dL (nmol/L)	70–99 (3.9–5.5)	173 (9.6)	112 (6.2)	85 (4.7)	103 (5.7)	124 (6.9)
HbA1c, %	4.1–6.0	9.5	6.5	—	5.9	8.4
Insulin, μU/mL	2.6–24.9	—	51.6	—	13.6	21.1
Total cholesterol, mg/dL (mmol/L)	<190 (<4.9)	192 (5.0)	177 (4.6)	162 (4.2)	206 (5.3)	234 (6.1)
Triglycerides, mg/dL (mmol/L)	<150 (<1.7)	638 (7.2)	130 (1.5)	62 (0.7)	77 (0.9)	93 (1.0)
LDL, mg/dL (mmol/L)	<130 (<3.4)	—	111 (2.9)	86 (2.2)	106 (2.7)	170 (4.4)
HDL, mg/dL (mmol/L)	>40 (>1.0)	31 (0.8)	41 (1.1)	64 (1.7)	83 (2.2)	43 (1.1)
FSH, IU/L	3.5–12.5
FSH, IU/L	25.8–134.8^c	5.9	7.1	7.7	65.5	51.5
LH, IU/L	2.4–12.6	3.9	39.3	8.1	28.7	22.5
Testosterone, ng/dL (nmol/L)	20–49 y: ≤48 (1.7)  >50 y: ≤41 (1.4)	32 (1.1)^b	101 (3.5)	24 (0.8)	—	46 (1.6)
Androstenedione, ng/mL (nmol/L)	<2.2 (7.7)	—	3.4 (11.9)	—	—	0.75 (2.6)

Abbreviations: HDL, high-density lipoprotein; LDL, low-density lipoprotein.

Clinical data of patients 4A, 4B, 4C, and 4D were previously reported Dauber et al. (18).

medroxyprogesterone.

Postmenopause levels.