Phenotypes associated with the disease Leydig cell hypoplasia, type 1 (OMIM:238320):
- Hypergonadotropic hypogonadism (HP:0000815): Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. Evidence: IEA. (OMIM:238320)
- Increased circulating gonadotropin level (HP:0000837): Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. Evidence: IEA. (OMIM:238320)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:238320)