Phenotypes associated with the disease hypogonadotropic hypogonadism 23 with or without anosmia (OMIM:228300):
- Hypogonadotropic hypogonadism (HP:0000044): Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Evidence: PCS. (PMID:17761593)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: TAS. (OMIM:228300)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: PCS. Frequency: 2/3. (PMID:17761593;PMID:15602022)
- Decreased circulating luteinizing hormone level (HP:0030344): A reduction in the circulating level of luteinizing hormone (LH). Evidence: PCS. Frequency: 3/3. (PMID:17761593;PMID:15602022)
- Decreased serum testosterone concentration (HP:0040171). Evidence: PCS. Frequency: 4/4. (PMID:17761593;PMID:1727547;PMID:15602022)
- Abnormality of the Leydig cells (HP:0010789). Evidence: PCS. (PMID:17761593)
- Decreased circulating dihydrotestosterone concentration (HP:0033810): A reduced concentration of dihydrotestosterone in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:15602022)
- Testicular microlithiasis (HP:0012215): The deposition of calcium phosphate microliths within the seminiferous tubules. Evidence: TAS. (OMIM:228300)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 2/2. (PMID:1727547;PMID:15602022)
- Secondary amenorrhea (HP:0000869). Evidence: TAS. (OMIM:228300)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 3/3. (PMID:17761593;PMID:15602022)
- 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: PCS. (PMID:1727547)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: IEA. (OMIM:228300)
- Abnormality of the sense of smell (HP:0004408): An anomaly in the ability to perceive and distinguish scents (odors). Evidence: PCS. Frequency: 0/2. (PMID:17761593)
- Androgen insufficiency (HP:0008226): Insufficient amount of androgenic activity. Evidence: IEA. (OMIM:228300)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: PCS. (PMID:1727547)
- Male hypogonadism (HP:0000026): Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. Evidence: PCS. Frequency: 2/2. (PMID:17761593)
- Ovarian cyst (HP:0000138): The presence of one or more cysts of the ovary. Evidence: TAS. (OMIM:228300)
- Sparse pubic hair (HP:0002225): Reduced number or density of pubic hair. Evidence: PCS. Frequency: 1/1. (PMID:15602022)
- Abnormal spermatogenesis (HP:0008669): Incomplete maturation or aberrant formation of the male gametes. Evidence: PCS. (PMID:17761593)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: PCS. Frequency: 3/3. (PMID:17761593;PMID:15602022)
- Sparse axillary hair (HP:0002215): Reduced number or density of axillary hair. Evidence: PCS. Frequency: 1/1. (PMID:17761593)