Ueyama Kaoru, Namba Noriyuki, Kitaoka Taichi, Yamamoto Keiko, Fujiwara Makoto, Ohata Yasuhisa, Kubota Takuo, Ozono Keiichi
Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
Department of Pediatrics, Osaka Hospital, Japan Community Healthcare Organization (JCHO), Osaka, Japan.
Clin Pediatr Endocrinol. 2017;26(3):177-182. doi: 10.1297/cpe.26.177. Epub 2017 Jul 27.
Acrodysostosis is characterized by distinctive facial features and severe brachydactyly. Mutations in or are known to be responsible for this disease. Cases of hormonal resistance have been reported, particularly in patients with mutations. The physical characteristics and endocrine function of pseudohypoparathyroidism type Ia is known to resemble acrodysostosis. We report the case of a 4-yr-old patient with a mutation. He had characteristic facies with an upturned nose and cone-shaped epiphyses of most phalanges. These findings have not been reported as extensive for cases of pseudohypoparathyroidism type Ia. He also had TSH resistance from birth. We performed endocrinological stimulation tests to further evaluate his endocrine status. These examinations revealed resistance to TSH and PTH, but there was normal secretion of ACTH, GH, and cortisol. An Ellsworth-Howard test resulted in normal urinary cAMP excretion. This response differs from that of pseudohypoparathyroidism type Ia. In summary, the constellation of an upturned nose, cone-shaped epiphyses of most if not all phalanges, and PTH resistance with a normal urinary cAMP response may satisfactorily enable clinical diagnosis of acrodysostosis.
肢端发育不全以独特的面部特征和严重的短指畸形为特征。已知 或 的突变是导致这种疾病的原因。已有激素抵抗病例的报道，特别是在有 突变的患者中。Ia型假性甲状旁腺功能减退症的身体特征和内分泌功能已知与肢端发育不全相似。我们报告了一例携带 突变的4岁患者。他具有特征性面容，鼻子上翘，大多数指骨的骨骺呈锥形。这些发现对于Ia型假性甲状旁腺功能减退症病例来说尚未被广泛报道。他从出生起就存在促甲状腺激素抵抗。我们进行了内分泌刺激试验以进一步评估他的内分泌状况。这些检查显示对促甲状腺激素和甲状旁腺激素有抵抗，但促肾上腺皮质激素、生长激素和皮质醇分泌正常。埃尔斯沃思 - 霍华德试验导致尿中环磷酸腺苷排泄正常。这种反应与Ia型假性甲状旁腺功能减退症不同。总之，鼻子上翘、大多数（如果不是全部）指骨的骨骺呈锥形以及甲状旁腺激素抵抗且尿中环磷酸腺苷反应正常这一系列表现可能足以实现肢端发育不全的临床诊断。
