GHR encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormones [22], and heterozygous mutations in this gene have been associated with partial growth hormone insensitivity and short stature, as in the case of mutations in POU1F1 that have been linked with growth hormone deficiency and lipedema [23]. The gene discussed is POU1F1; the disease is Lipedema.