Congenital hypogonadotropic hypogonadism
Conditions
Interventions
Boys with congenital hypogonadotropic hypogonadism:r-FSH
Sponsors
Shenzhen Children’s Hospital
Eligibility
Sex/Gender
Male
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: 1. Age 0~1 years: (1) micropenis and/or cryptorchidism (especially bilateral), (2) LH persistently less than 1.0 U/L within 3 months of age. If only 1 is met, (3) a positive family history of CHH and a cleft lip or palate or with anosmia or olfactory bulb, olfactory tract, and olfactory tract on imaging are required Sulcus dysplasia, or (4) according to the standards of the United States Society of Medical Genetics, genetic testing Present CHH-related gene pathogenic or possibly pathogenic variants. 2. Age 14~18 years: (1) bone age >= 12 years old, (2) testicular volume < 4 ml, (3) micropenis, cryptorchidism or partial pubertal development, and then growth arrest (follow-up for half a year), (4) basal LH level at the prepubertal level (LH<0.7 IU/L) and /GnRHa excitation LH peak <4.0, GnRH excitation LH peak <8.0 IU/L, (5) The karyotype of the chromosome is 46, XY. If 1-5 are not fully met, (6) genetic testing reveals pathogenic or possibly pathogenic variants in CHH-related genes according to the United States Society of Medical Genetics criteria. 3. Age 1~5 years old: (1) micropenis and cryptorchidism, (2) GnRH provocation test LH peak < 1.0 U/L, (3) The karyotype of the chromosome is 46, XY. If 1-3 are not fully met, (4) a positive family history of CHH, or (5) genetic testing for CHH-related pathogenic or possibly pathogenic variants according to the United States Medical Genetics Society criteria.
Exclusion criteria
Exclusion criteria: 1. Acquired HH, i.e., HH due to trauma, tumor, surgery, medication, radiotherapy, or chronic systemic disease; 2. Known hypersensitivity reaction to any of the investigational drugs or related compounds; 3. Relevant drug treatment history: hCG or GnRH pulse pump, hCG combined with FSH (HMG) treatment, testosterone androgens Hormones, Erzhi Tiangui Granules and other traditional Chinese and Western medicine drugs that affect testicular function, and the duration is >= 2-4 weeks Exclusion is considered, among which: (1) Patients who have no previous medication history within 3 months before starting FSH treatment will not be excluded Exclude; (2) Children aged <=12 months with a previous medication history are not excluded; 4. Researchers have determined that individuals with severe testicular dysfunction (such as testosterone levels<2.0 nmol/L after hCG stimulation or testosterone levels<3.47 nmol/L after prolonged stimulation testing; AMH or INHB<detection limit, etc.); 5. Patients with severe hypospadias (those with mild non-surgical treatment for hypospadias are not excluded); 6. Combined with serious functional damage of important organs such as heart, brain, liver, kidney, etc.; Concomitant chronic wasting Disease; congenital retardation of intellectual development; 7. Other conditions that are considered inappropriate by the investigator to participate in the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Changes in testicular volume before and after recombinant human follicle-stimulating hormone (rFSH) treatment (?TV);; | — |
Secondary
| Measure | Time frame |
|---|---|
| (1) to evaluate the response rate of rFSH after 3 months in patients with CHH;;(2) the changes in the levels of each hormone (LH, FSH, T, INH-B, AMH) and testicular volume (TV) before and after treatment;;and (3) differences in the efficacy of rFSH in patients with CHH of different ages (0-1 years, 1-5 years, 14-18 years).;(1) the incidence of any adverse events/reactions;;(2)Serious adverse events (SAEs).; | — |
Countries
China
Contacts
Public ContactSu Zhe
Shenzhen Children’s Hospital
Outcome results
None listed