Obstructive Sleep Apnea and Otolaryngologic Manifestations in Children with Pseudohypoparathyroidism

Abstract

Background/Aims: Pseudohypoparathyroidism (PHP) is a rare, genetic disorder. Patients with PHP may have increased prevalence of obstructive sleep apnea (OSA) but this has not been prospectively studied. Methods: We enrolled children aged 6–18 years with PHP and matched controls. Evaluation included physical examination, medical history, and polysomnography. Results: Fifteen children with PHP type 1A (PHP1A) and 15 controls completed the study. Both groups were obese (BMI 32.2 ± 8.7 vs. 31.7± 6.5). The majority of PHP1A patients required tympanostomy tubes (86.7%) and adenotonsillectomy (73.3%). The primary outcome, i.e., the obstructive disturbance index, was significantly higher in PHP1A children versus controls (1.8 ± 2.3 vs. 0.6 ± 0.5, p = 0.045). Children with PHP1A were more likely to have OSA compared with controls (60.0 vs. 13.3%, p = 0.008). Three siblings with PHP type 1B (PHP1B) were also studied (BMI 25.9 ± 9.0). None had a history of adenotonsillectomy, one had tympanostomy tubes. The obstructive disturbance index (2.0 ± 2.3) was similar to that of children with PHP1A. Two (66.7%) PHP1B participants had OSA. Conclusion: Children with PHP1A are at an increased risk for OSA compared with similarly obese peers. They also have higher rates of otitis media and adenotonsillar hypertrophy. Screening for OSA should be considered in all patients with PHP1A and possibly PHP1B though more research is needed.

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

“…Sleep apnea, a well-known complication of obesity, has been reported to be more frequent in patients affected with PHP1A [77, 78] and may also be present in acrodysostosis [40]. Phenotypically, these patients present with round faces, a flattened nasal bridge, and/or maxillary hypoplasia [26, 50] which, combined with obesity, mechanically contributes to the development of sleep and respiratory disturbances [70, 77].…”

Management of pseudohypoparathyroidism

“…The prevalence of sleep apnoea in PHP1A (including both OSA and central apnoea) was found to occur at a 4.4-fold greater relative risk than similarly obese children in a retrospective study, which was out of proportion to the obesity alone [55]. A recent prospective study revealed that significant OSA occurred in 60% of children with PHP1A and seemed amplified possibly due to their craniofacial issues, along with an increased prevalence of hypotonia and asthma [22,56 ▪ ].…”

Snow White and the Seven Dwarfs: a fairytale for endocrinologists

“…However, during adolescence and early adulthood, energy expenditure is enhanced, whereas hyperphagia declines and, consequently, obesity is less pronounced in adulthood than in childhood ( 55 ). Although sleep apnea is a well-known complication of obesity, the observation that sleep disturbances are more often encountered (4.4-fold higher risk) in patients with PHP1A than in control subjects with comparable BMI is particularly intriguing ( 56 , 57 ). This highly unusual feature exactly tallies with Sleepy’s behavior.…”