Kallmann syndrome (KS)
Conditions
Interventions
KS group:None
Constitutional adolescent developmental delay children group:None
Sponsors
Wuhan Children's Hospital
Eligibility
Sex/Gender
Male
Age
4 Years to 18 Years
Inclusion criteria
Inclusion criteria: 1. Patients with clinical and genetic diagnosis of KS. 2. There are clinical manifestations of hypogonadism: the penis and testis are significantly smaller than children of the same age or cryptorchidism, the vulva is immature, and there is no pubic hair development. 3. Anosmia or hyposmia, or MRI of the olfactory bulb suggests unilateral or bilateral absence or hypoplasia of the olfactory bulb and olfactory tract. 4. Low levels of sex hormones LH, FSH, TT, and prepubertal levels. 5. GnRH stimulation experiments showed that gonadotropins were low. The domestic IHH consensus holds that when men use gonarelin or triptorelin for GnRHa excitation test, the cut-off value of the 60-minute LH level is 8IU/L and 4u/1, respectively. 6. KS-related pathogenic genes were detected. 7. Exclude other: (1) Brain magnetic resonance imaging showed no abnormality in the morphology and structure of the hypothalamus and pituitary gland; (2) Hypothalamus-pituitary-thyroid gland; (3) There is no obvious abnormality in the function of the adrenal gland/growth hormone axis; (4) There is no obvious abnormality in prolactin; blood and urine routine, liver and kidney function, electrolytes, myocardial enzymes and other indicators are not abnormal; (5) The chromosomal karyotype is normal, and chromosomal abnormalities are excluded.
Exclusion criteria
Exclusion criteria: 1. History of chemotherapy, radiotherapy, and tumor; 2. Those with other major systemic diseases.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Luteinizing hormone;Follicle stimulating hormone; | — |
Countries
China
Contacts
Public ContactLi Ruizhen
Wuhan Children's Hospital
Outcome results
None listed