Letter to the Editor Partial Hypopituitarism in Patients With Sturge-Weber Syndrome To the Editor: Although we have independently published the increased risk of both growth hormone deficiency and central hypothyroidism in Sturge-Weber syndrome (SWS), there is little research on multiple endocrine abnormalities within individual patients with SWS. We report three pa- tients with SWS and partial hypopituitarism to draw attention to the need for thorough monitoring of endocrine issues in patients with SWS and to point to the need for further research on the underlying causes of partial hypo- pituitarism in this patient population. We have observed and previously reported an 18-fold increase in the prevalence of growth hormone deficiency in patients with SWS compared with the general popula- tion. 1 We have also previously reported the prevalence of central hypothyroidism to be 2.4% of our patient population with SWS versus 0.0002%-0.005% of the general population. 2 Panhypopituitarism is a decreased production of all anterior pituitary hormones, whereas partial hypopituita- rism is a decreased production of any combination of anterior pituitary hormones. It is important that these cases be made available for a more thorough understanding of endocrine issues in patients with SWS so that they may be more accurately diagnosed and treated. Subjects and Methods Within our patient population, we were able to identify three pa- tients with deficiencies in at least two anterior pituitary hormones. We defined central hypothyroidism as a free thyroxine level below the normal range for age associated with a low or normal thyroid- stimulating hormone level, using a free thyroxine equilibrium dialysis assay, in accordance with our previously published methods. 3 We defined growth hormone deficiency as abnormal if the peak growth hormone level was 7 mg/L, using standardized growth hormone stim- ulation testing, in accordance with our previously published methods. 1 Standardized assays were performed at the Johns Hopkins Hospital Clinical Laboratories (Baltimore, Maryland). The Table shows the clinical characteristics and endocrine abnor- malities for all three patients. Discussion Based on these subjects and the report of a 19-year-old man with partial hypopituitarism and SWS reported by Kota et al. (2012), it appears that partial hypopituitarism is a serious concern for patients with SWS. 4 These results sug- gest that if one hormone deficiency exists, it is important to look for other deficiencies because they are often present concurrently. Although we predict that SWS-related ischemic and seizure insults on the central nervous system are a key component to the development of endocrine issues, the exact mechanisms remain unknown. It is possible that panhypopituitarism is linked to abnormal blood flow to the brain. However, the brain imaging of patients 1 and 3 do not differ from patients with SWS who do not experience par- tial hypopituitarism. Additionally, patient 2 exhibits partial hypopituitarism in the context of SWS, without any brain involvement. This leads us to believe that the mechanism may not entirely relate to blood flow to the brain. Regard- less of mechanism, it is important that patients with SWS and endocrine dysfunction are properly identified with SWS and are appropriately treated and monitored for their endocrine dysfunction. References 1. Miller RS, Ball KL, Comi AM, Germain-Lee EL. Growth hormone deficiency in Sturge-Weber syndrome. Arch Dis Child. 2006;91: 340-341 . 2. Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL. Central hypothyroidism and Sturge-Weber syndrome. Pediatr Neu- rosci. 2008;39:58-62. 3. Siddique L, Sreenivasan A, Comi AM, Germain-Lee EL. Importance of utilizing a sensitive free thyroxine assay in Sturge-Weber syndrome. J Child Neurol. 2012;28:269-271 . 4. Kota SK, Meher LK, Kota SK, et al. Sturge-Weber syndrome: presen- tation with partial hypopituitarism. J Pediatr Endocrinol Metab. 2012; 25:785-789. Table. Clinical Characteristics of Participants Patient 1 Patient 2 Patient 3 Sex Male Male Male Brain involvement side Left None Right Port-wine birthmark side Left Bilateral Bilateral Glaucoma side Left Bilateral Bilateral Age of seizure onset 6 months No seizures 3.6 months Growth hormone Insufficient Insufficient Insufficient Sex hormone Insufficient * Insufficient Cortisol y Sufficient Sufficient Thyroid-stimulating hormone Insufficient Insufficient Insufficient * Patient 2 has not yet reached puberty, so the possibility of any sex hormone deficiencies has not been pursued. y Patient 1 has been on prednisone for many years, which makes it impossible to test accurately for cortisol levels. No cortisol testing results are available before prednisone use began. Contents lists available at ScienceDirect Pediatric Neurology journal homepage: www.elsevier.com/locate/pnu Pediatric Neurology 53 (2015) e5ee6 0887-8994/$ e see front matter Ó 2015 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.pediatrneurol.2015.04.005