Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders ลักษณะที่พบ ได้แก่ ตัวเตี้ย หน้ากลม อ้วน ectopic ossifications, หรืออาจพบภาวะดื้อต่อ TSH ได้

Major criterion: brachydactyly type E (premature fusion of the epiphyses)

Major criterion: short stature by adulthood relative to the height of the unaffected parent

Additional criterion: stocky build

Additional criterion: round face in comparison with siblings and degree of obesity, if present

Additional criterion: ectopic (and often subcutaneous) ossifications

The following features support the diagnosis of PHP and related disorders:
• Endocrine: elevated levels of TSH, unexplained congenital hypothyroidism (mildly elevated levels of TSH), hypogonadism, hypercalcitoninaemia and/or GH deficiency
• Neurological: cognitive impairment, hearing impairment, spinal stenosis, Chiari malformation type 1, syringomyelia, carpal tunnel syndrome and/or craniosynostosis
• Mineralization defects: enamel hypoplasia, delayed tooth eruption or tooth ankylosis, oligodontia or hypodontia, advanced skeletal maturation, cataract and/or central nervous system (CNS) calcifications
• Others: sleep apnoea, ear infection, asthma,
early-onset obesity, SGA and/or cryptorchidism

การรักษา – ให้แคลเซียมและวิตามินดีชนิด active (calcitriol) or analogues (alfacalcidol) เพื่อลดระดับ PTH ให้อยู่ในช่วง upper portion of
the reference range เพื่อป้องกัน hypercalciuria และ  renal calcification.