X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3–Xp11 in a Chinese family

Genetic mutations have been identified in a modest proportion of patients with combined pituitary hormone deficiency (CPHD). We reported a 3-generation family consisting of 18 members, including 5 affected males (the proband, his 2 brothers, his cousin, and his maternal uncle; III1–III4, II8) suffered with CPHD. MRI of the pituitary gland showed hypoplasia of the pituitary gland in affected members. By 19 STR markers and linkage analysis, we found that the disease gene localized between the DXS987 and DXS1226 markers (LOD score = 2.408, θ = 0). All affected male patients inherited the same haplotype from the female carrier (I4). The proband's mother (II4) and her sister (II3, II6) were obligate female carriers. However, the unaffected males (II7, II9) in the family did not have this haplotype. These observations confirm a new X-linked recessive inherited disease in a Chinese family with CPHD and the pathogenic gene is mapped to Xp22.1–Xp11.

► A 3-generation family consisting of 18 members was reported, including 5 affected males suffered with combined pituitary hormone deficiency.
► The gene localized between the DXS987 and DXS1226 markers was found by 19 STR markers and linkage analysis.
► The same haplotype from the female carrier (I4) was found in all affected male except the unaffected males (II7, II9).
► The proband's mother (II4) and her sister (II3, II6) were obligate female carriers.
► X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family.