The Clinical and Genetic Characteristics in Children with Idiopathic Hypogonadotropin Hypogonadism
Table 1
Clinical characteristics of 6 patients with KS.
No.
Gender
Diagnosis age (y)
Puberty
Height (cm)
Micropenis/cryptorchidism
Specific disease history/associated phenotypes
Family history
TV (mL)
HCG test: basal/post
LHRH test: basal/post
Olfaction/OB on MRI
T (ng/mL)
LH (mIU/mL)
FSH (mIU/mL)
KS1
M
13.0
Absent
145.0
+/+
Depressive disorder, short stature
L0.5, R0.4
<0.02/-
<0.1/-
0.4/-
Hyposmia/abnormal
KS2
M
15.6
Absent
152.5
+/-
Short stature
L0.3, R0.5
0.40/0.86
<0.07/1.77
0.61/5.34
Hyposmia/abnormal
KS3
M
13.2
Absent
150.0
+/+
CDGP (father), younger bother with same mutation
L0.95, R0.5
0/0.26
<0.07/-
3.62/-
Normal/abnormal
KS4
M
15.7
Absent
164.8
+/+
L0.53, R0.76
0.13/-
<0.07/6.16
1.92/5.22
Normal/abnormal
KS5
M
18.7
Partial
170.0
-/-
Left ear hearing impairment, inarticulate, gynecomastia, depigmentation, intellectual defect
L2.5, R3.0
0.44/-
1.3/-
2.6/-
Hyposmia/abnormal
KS6
M
11.7
Absent
141.0
+/-
L0.17, R0.17
0.13/-
0.07/-
1.06/-
Hyposmia/abnormal
His testicles may have developed in Tanner stage 2 by the age of 15, but there was no progress for the next 3 years. TV, . CDGP: constitutionally delayed growth and development.
