- 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: PCS. Frequency: 3/3. (PMID:31883645)
- Gonadotropin-releasing hormone deficiency (HP:0003164): Gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids (primarily testosterone or estradiol). GnRH is not typically assayed directly because it is released in pulses from the hypothalamus, and its concentration can fluctuate rapidly and in a complex pattern that makes single blood measurements less informative than the pituitary's response. Evidence: PCS. Frequency: 4/4. (PMID:31883645)
- Anosmia (HP:0000458): An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. Evidence: PCS. Frequency: 4/4. (PMID:31883645)
- Decreased serum testosterone concentration (HP:0040171). Evidence: PCS. Frequency: 3/3. (PMID:31883645)
- Decreased serum estradiol (HP:0008214): A reduction below normal concentration of estradiol in the circulation. Evidence: PCS. Frequency: 1/1. (PMID:31883645)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:31883645)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 3/3. (PMID:31883645)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 1/1. (PMID:31883645)
- Hypoplasia of the ovary (HP:0008724): Developmental hypoplasia of the ovary. Evidence: PCS. Frequency: 1/1. (PMID:31883645)
These phenotypes are associated with the disease hypogonadotropic hypogonadism 25 with anosmia (OMIM:618841).