Table 1.

Clinical and Laboratory Evaluation of an Adolescent Girl With an Insulin Receptor Gene Mutation

	Initial Presentation	1-mo Follow-Up	5-mo Follow-Up	9-mo Follow-Up	12-mo Leuprolide Initiated	13-mo Follow-Up	17-mo Follow-Up	Reference Range
Reproductive markers
Total testosterone, ng/dL	96	142	99	139		7	22	<50
Free testosterone, ng/dL	2.2	3.6	2.7	3.1		0.2		<1.09
Androstenedione, ng/dL			258					80–240
DHEA, ng/dL	415							39–481
DHEAS, μg/dL			133					50–540
17-OHP, ng/dL	178		146					20–265
LH, mIU/mL	11.6	12.1	9.4	12.7		0.3	1.0	—
FSH mIU/mL	4.2	4.1	4.2	4.5		2.0		—
Ovarian volume, cm3
Right ovary		5.0		10.6			4.4	10
Left ovary		8.9		8.8			5.7	10
Follicle number per ovary
Right ovary		18					26	—
Left ovary		20					18	—
Follicle number per section
Right ovary		7		6			10	9
Left ovary		8		19			10	9
Endometrial thickness, cm		0.6		0.7			0.6	1.0
Metabolic markers
Random cortisol, μg/dL			4.7					—
HbA1c, %		5.6	5.5	5.4		5.8	6.4	<6
OGTT 0-min glucose, mg/dL		80				84	91	<100
OGTT 2-h glucose, mg/dL		199				159	181	<140
OGTT 0-min insulin, μIU/mL		63.1				397.0	90.9	—
OGTT 2-h insulin, μIU/mL		1480				1326	1038	—

Table provides laboratory and transabdominal ultrasound results for the patient at initial presentation and throughout the treatment course at each of her follow-up visits. The shaded column demonstrates the initiation of leuprolide at the patient’s 12-mo follow-up visit, and in the columns to the right (13-mo and 17-mo follow-up visits) she continues on leuprolide treatment. Reference ranges are reported when available based on internal assays.

Abbreviations: DHEA, dehydroepiandrosterone; DHEAS, dehydroepiandrosterone sulfate; 17-OHP, 17-hydroxyprogesterone.