Background. Griscelli syndrome (GS) is a rare disorder characterized by
partial albinism and
silver hair with alteration in genes necessary for
melanin transport. Type 2 GS is fatal due to severe immunodeficiency without curative stem cell transplant (SCT). Late endocrinopathies are quite common in other disorders after SCT. These complications have not been reported in GS. Case Presentation. A 7-year-old female presented for growth failure with a history of GS status post curative SCT and consequently developed
graft-versus-host disease (GvHD). She also had a history of eosinophilic
enterocolitis, for which she was taking supraphysiologic
glucocorticoids for the past year. She presented with severe short stature along with mild
hyperthyroxinemia with subsequent diagnosis of
Graves' disease, which was treated with
methimazole. GH
therapy was commenced due to persistent growth failure, with a robust increase in growth parameters. She started spontaneous puberty; however, initial biochemical evaluation revealed
hypergonadotropic hypogonadism with undetectable
anti-Mullerian hormone (AMH) consistent with low ovarian reserve and
premature ovarian failure. Discussion. Growth failure was multifactorial due to her inflammatory condition and poor
weight gain from multiple underlying illnesses, including
hyperthyroidism, as well as chronic supraphysiologic
glucocorticoid use. Although
hypothyroidism is more commonly seen after SCT, rare cases of
hyperthyroidism have been reported. In addition to SCTs, GvHD and GS have been associated with autoimmune conditions. It is important to monitor pubertal progression as the majority of those treated with
alkylating agents prior to SCT have pubertal and ovarian failure and remain at risk for
premature menopause.