A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom

BMC Medical Genetics

Table 1 The physical characteristics of the patient

Characteristics	Value	Characteristics	Value
Age (year)	16	BMD^b	Z: -4.5
Gender	Female	FSH^b (3.5-12.5mIU/ml)	127.4
Height (cm)	150^a	LH^b (2.4-12.6 mIU/ml)	65.25
Weight (kg)	39	E2^b (45.4-854 pmol/l)	18.35
Blood Pressure (mmHg)	100/66	25 (OH) D3 (ng/ml)	19.68
Hair shaft	Tiger-tail pattern	Intelligence	<40^c
Pubes	Tanner I	Skeletal age (year)	12
Breast	Tanner II	The same symptoms in family	No
Cataracts	Bilateral	Family history	Her parents are cousins
Upper/lower	0.9:1	Sulfur level of hair	Lower than normal^d
Menstruation	primary amenorrhea	Two stimulation tests for GH^b	Normal

^aThe value is smaller than the 3rd centile on the 2009 Chinese Academy of Pediatrics Growth Chart
^bAbbreviations are BMD: Bone Mineral Density, FSH: Follicle-Stimulating Hormone, LH: Luteal hormone, E2: Estradiol, and GH: Growth Hormone
^cValue was based on Wechsler intelligence scale
^dThe value of patient is 1.905 mg/kg, which is significantly lower than that of normal group, i.e., mother: 4.177 mg/kg, father: 4.811 mg/kg, and a normal control: 4.62 mg/kg (P=0.02, t-test)

ISSN: 1471-2350