Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome

Table 1

The results of auxiliary examination on the KS proband.

Clinical examination	Results	Reference range
Height/weight (cm/kg)	175/86	—
Biochemical testing
FSH (mIU/ml)	2.3	1.5–12.4
LH (mIU/ml)	1.8	1.7–8.6
Testosterone (ng/ml)	1.9	2.8–8.0
Estradiol (pg/ml)	46.64	11.3–43.2
Prolactin (ng/ml)	12.36	4.79–23.3
GnRH stimulation test (mIU/ml)	3.7 (LH peak appeared at 90 min)	—
Semen routine
Specimen volume (ml)	0.5	≥1.5
Number of sperm (×10 ∧ 6/time)	21.85	≥39
PR + NP (%)	18.10	≥40
PR (%)	9.70	≥32
NP (%)	8.40	—
IM (%)	81.90	—
SIT-16	Hyposmia	—
Ultrasound of the genital system	Small volume of bilateral testis	—
Ultrasound of the breast	Bilateral gynaecomastia	—

KS: Kallmann syndrome; FSH: follicle-stimulating hormone; LH: luteinizing hormone; GnRH: gonadotropin-releasing hormone; SIT-16: sniffing sticks 16-identification test.