de Arriba Muñoz A, Labarta Aizpún J I, Dehesa E Mayayo, Calvo M T, Pérez de Nanclares G, Ferrández-Longás A
Unidad de Endocrinología Pediátrica, Hospital Infantil Miguel Servet, Zaragoza, Spain.
An Pediatr (Barc). 2011 Feb;74(2):116-21. doi: 10.1016/j.anpedi.2010.09.024. Epub 2010 Dec 18.
Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine diseases characterised by hypocalcaemia, hyperphosphataemia and resistance to PTH. There are different forms of PHP. PHP-Ia is the most frequent form and shows multi-hormonal resistance, GNAS (Gs(α)) mutations and signs of Albright́s hereditary osteodystrophy (AHO). PseudoPHP (PPHP) have isolated AHO without hormonal resistance and it is also caused by GNAS mutations. We present a family that share the same inactivating GNAS mutation (Asn264LysfsX35); the mother being affected with PPHP and the two daughters with PHP-Ia. We discuss the different clinical phenotypes and the dominant mode of inheritance with genetic imprinting where the phenotype of the offspring depends on the sex of the parent affected.
假性甲状旁腺功能减退症（PHP）是一组异质性内分泌疾病，其特征为低钙血症、高磷血症以及对甲状旁腺激素（PTH）抵抗。PHP有不同的类型。PHP-Ia是最常见的类型，表现为多激素抵抗、GNAS（Gs(α)）突变以及奥尔布赖特遗传性骨营养不良（AHO）体征。假性PHP（PPHP）仅有孤立的AHO而无激素抵抗，它同样由GNAS突变引起。我们报告一个家族，其成员共享相同的失活GNAS突变（Asn264LysfsX35）；母亲患有PPHP，两个女儿患有PHP-Ia。我们讨论了不同的临床表型以及具有遗传印记的显性遗传模式，其中后代的表型取决于受影响亲本的性别。
