Sasidharan Pillai Sabitha, Reyes Monica, Jüppner Harald, Topor Lisa Swartz
Division of Pediatric Endocrinology, Hasbro Children's Hospital, Providence, RI 02903, USA.
Department of Pediatrics, The Warren Alpert Medical School of Brown University, Providence, RI 02903, USA.
JCEM Case Rep. 2024 Aug 27;2(9):luae152. doi: 10.1210/jcemcr/luae152. eCollection 2024 Sep.
We report growth hormone (GH) deficiency due to presumed GH releasing hormone (GHRH) resistance in an adolescent with pseudohypoparathyroidism type 1B (PHP1B) due to paternal uniparental disomy of chromosome 20 (patUPD20). A male patient aged 11 years 10 months with obesity and mild developmental delay was found to have hypocalcemia, hyperphosphatemia, and an elevated parathyroid hormone level. History included muscle cramps and leg pain with activity. Examination showed round facies, short stature, and obesity. He was in puberty and bone age was advanced by > 2 years. Detailed genetic workup, including nucleotide sequence analysis of exons 1-13 and , methylation-sensitive multiplex ligation-dependent probe amplification and analysis of several microsatellite markers for chromosome 20, established the diagnosis of PHP1B due to patUPD20. Muscle cramps and hypocalcemia resolved with calcium carbonate, ergocalciferol, and calcitriol treatment. He was short with linear growth deceleration at around age 13 years. Peak GH concentration was insufficient following stimulation testing. Growth velocity improved with human GH treatment. Although rare, resistance to GHRH can occur in PHP1B and patients with this disorder should be evaluated for GH insufficiency if they present with short stature and reduced growth velocity. Treatment with recombinant human GH may improve growth velocity in such patients.
我们报告了一名1B型假性甲状旁腺功能减退症（PHP1B）青少年患者，因20号染色体父源单亲二倍体（patUPD20）导致推测的生长激素释放激素（GHRH）抵抗而出现生长激素（GH）缺乏。一名11岁10个月大的男性患者，有肥胖和轻度发育迟缓，发现有低钙血症、高磷血症和甲状旁腺激素水平升高。病史包括活动时肌肉痉挛和腿痛。体格检查显示圆脸、身材矮小和肥胖。他处于青春期，骨龄提前超过2岁。详细的基因检查，包括外显子1 - 13的核苷酸序列分析，以及20号染色体几个微卫星标记的甲基化敏感多重连接依赖探针扩增和分析，确诊为patUPD20所致的PHP1B。碳酸钙、麦角钙化醇和骨化三醇治疗后，肌肉痉挛和低钙血症得到缓解。他身材矮小，在13岁左右线性生长减速。刺激试验后峰值GH浓度不足。使用人生长激素治疗后生长速度加快。虽然罕见，但PHP1B患者可能会出现对GHRH的抵抗，如果这类患者出现身材矮小和生长速度减慢，应评估其生长激素不足情况。重组人生长激素治疗可能会提高这类患者的生长速度。
