Pseudohypoparathyroidism type Ia and growth hormone deficiency. Growth hormone releasing hormone receptor defect?

Comparison of Expression of Growth Hormone-Releasing Hormone and Its Receptor Splice Variant 1 in Different Stages of Endometriosis

Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report

INTRODUCTION Growth retardation is one of the cardinal manifestations of glycogen storage disease type Ia. It is unclear which component of the growth hormone and/or insulin-like growth factor axis is primarily disrupted, and management of growth impairment in these patients remains controversial. Here we report the first case in the literature where glycogen storage disease type Ia is associat...

The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?

A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS...

Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene

Pseudohypoparathyroidism type Ia (PHP-Ia) is characterized by multihormone resistance and an Albright hereditary osteodystrophy (AHO) phenotype. It is caused by heterozygous mutations in GNAS gene. Clinical and biochemical findings of a female PHP-Ia patient were evaluated from age of diagnosis (6.5 years) to 14.5 years of age. The patient had short stature, brachydactyly, and subcutaneous hete...

بررسی چند شکلی ژنتیکی و فراوانی آللی جایگاه ژنی GHRH (Growth-hormone-releasing hormone) در گاوهای سرابی ایران

   انتخاب حیوان بر اساس نشانگرهای مولکولی یکی از جدیدترین روش­های اصلاحی است که می‌تواند باعث بهبود صحت پیش‌بینی و پاسخ به انتخاب شود. GHRH (Growth-hormone-releasing hormone) یکیازژن­هایبرگزیدهبرایاستراتژی‌هایانتخاببراساسمارکرمی‌باشد.براساسگزارشاتموجود، چندشکلی‌هایژن بهطورمعنی‌داریباصفاتاجزایشیروتولیدآنارتباطدارد. به منظور بررسی چندشکلی (پلی‌مورفیسم) مکان ژنی GHRH در نژاد سرابی، از 112 رأس گاو ...