Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome

What is already knoWn on this topic?What this study adds?In addition to a delayed pubertal surge in testosterone, we documented a delayed increase in dehydroepiandrosterone sulfate and delayed pubarche in our patient.We suspect that a delayed adrenarche might be part of the clinical phenotype of patients with IGSF1 deficiency and contributes to delayed bone maturation.Loss of function of the immunoglobulin super family member I (IGSF1) gene is characterized in males by central hypothyroidism, delayed testosterone rise in puberty despite normal timing of testicular enlargement, and adult macro-orchidism.Approximately 15% of male patients have transient growth hormone deficiency and 65% have hypoprolactinemia.Normally, the mature glycoform of IGSF1 is localized at the cell surface, and most loss-of-function mutations impair its glycosylation or trafficking to the cell membrane.