The Clinical and Genetic Characteristics in Children with Idiopathic Hypogonadotropin Hypogonadism

Table 2

Clinical characteristics of 8 patients with nIHH.

No.

Gender

Diagnosis age (years)

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)

nIHH1

M

7.9

Absent

132.0

+/-

Nephrotic syndrome (2 years of cortisol therapy since age 3), obesity

NA

0.23/-

<0.07/-

0.82/-

Normal/normal

nIHH2

M

10.1

Absent

143.0

+/-

Overweight

NA

0.11/1.47

0.39/-

3.56/-

Normal/normal

nIHH3^a

M

2.4

NA

94.0

+/-

Congenital penis curvature, scrotal division

NA

0.2/-

0.28/-

0.91/-

NA/normal

nIHH4

M

2.1

NA

91.0

+/+

NA

0.12/-

0.04/-

0.55/-

Normal/NA

nIHH5

M

16.7

Absent

140.0

+/+

Short stature, obesity, diabetes, fatty liver

L0.36,R0.63

0.21/0.38

0.3/1.91

1.23/4.8

Normal/normal

nIHH6

M

14.4

Absent

156.5

+/-

CDGP (mother)

L0.54, R0.6

0.1/0.62

0.31/6.53

0.59/6.3

Normal/NA

nIHH7

M

16.5

Absent

165.7

+/-

Obesity

CDGP (father)

L2.0, R2.5

0.17/0.29

0.2/4.4

1.7/4.6

Normal/NA

nIHH8

F

16.2

Partial^b

158.5

Ovarian cystic teratoma, inarticulate, intellectual defect

E2:14.9 pg/mL

<0.1/0.44

0.31/1.11

Normal/NA

a: He was only tested for sex hormones when he was six months old. b :She had Tanner stage 2 breast development at 13 years of age and it did not progress for the next 3 years NA, not available. CDGP: Constitutionally delayed growth and development.