- Inappropriately normal thyroid-stimulating hormone level (HP:0033075): A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3. Evidence: PCS. Frequency: 16/16. (PMID:24108313)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:23143598)
- Reduced circulating prolactin concentration (HP:0008202): A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. Evidence: PCS. Frequency: 16/24. (PMID:24108313)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 17/17. (PMID:24108313)
- Overweight (HP:0025502): Increased body weight with a body mass index of 25-29.9 kg per square meter. Evidence: TAS. (OMIM:300888)
- Reduced TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033082): A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test. Evidence: PCS. (PMID:24108313)
These phenotypes are associated with the disease X-linked central congenital hypothyroidism with late-onset testicular enlargement (OMIM:300888).