Konstantina Nikolaou, Maria Papagianni, Dimitra Siopi, Katerina Markopoulou, Nikos Kareklas, Artemis Galanou, Michalis Agrafiotis, Venetia Tsara
Background: Prader-Willi syndrome (PWS) is a rare genetic disorder, which incidence is 1/10,000-1/30,000. It is characterized by hypotonia, short stature, delayed motor and mental development, hypogonadism, hyperphagia, obesity and specific physical appearance. It has been observed increased frequency of obstructive apneas-hypopnoeas and sleep architecture disorder in patients with PWS. Prescription of growth hormone (GH) is indicated in childhood, in patients with genetic confirmed syndrome and growth disorders. However, several case reports raise the question of interaction between the growth hormone therapy and apnea syndrome.
Case presentation: A case of a 7-year-old girl with PWS is examined, who started treatment with GH in 2012 and her respiratory function has been followed up for two years with continuous sleep studies. The first sleep study type III showed AHI 9.5/h, average SpO2 97.8%, minimum SpO2 91% and oxygen desaturation index (ODI) 4.8/h. A year later, a new polysomnography (PSG) study demonstrated AHI 3.1/h, average SpO2 96%, minimum SpO2 91% and ODI 4/h. On 5th/2014, while she was at the 4th semester of therapy with GH, the PSG study recorded deterioration with AHI 42.9/h, ODI 32.4/h, average SpO2 95.8% and minimum 83%. The hormone therapy was blamed for this worsening and consequently the therapy was terminated. The patient underwent a sleep study type III, three months after the therapy disruption and there has been reported an important improvement: AHI 11.2/h, average SpO2 95%, minimum SpO2 92%.
Conclusions: The therapy with growth hormone in patients with PWS may cause sleep breathing disorder and result in apneas. Patients should be strictly observed with continuous sleep studies in order to continue the therapy or not. The deterioration of respiratory function during sleep is an indication for disruption of hormone therapy, something that can gradually restore the observed disorder.
