title: Pseudohypoparathyroidism type Ia and growth hormone deficiency. Growth hormone releasing hormone receptor defect?
abstract: We report a boy with pseudohypoparathyroidism (PHP), hypothyroidism and low growth hormone (GH) values with no response to growth hormone releasing hormone (GHRH). He presented at age 17 mo because of developmental delay. He had the typical features (short stature, obesity, round face, brachydactyly) of Albright's hereditary osteodystrophy (AHO) and the biochemical profile of PHP; low serum calcium and high phosphate, raised parathormone (PTH) values and lack of response of urinary phosphate and cyclic AMP to PTH administration. The serum total thyroxine value (T4) was 37.32 nmol/L and the thyroid stimulating hormone (TSH) 29 mU/L. Peak GH values during two provocative tests (Glucagon, L-Dopa) were <2.5 microg/L and <1.7 microg/L, respectively, while following GHRH administration the maximum GH value was 0.2 microg/L. The IGFI value was 65 ng/ml and rose to 253 ng/ml after GH administration for three days. This boy had PTH and TSH receptor defect and we speculate that he also has GHRH receptor defect.
authors.affiliation: First Pediatric Department, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: Fotini
authors.initials: F
authors.lastname: Psychou
authors.forename: Polyxeni
authors.initials: P
authors.lastname: Nicolaidou
authors.forename: Helen
authors.initials: H
authors.lastname: Georgouli
authors.forename: Maria
authors.initials: M
authors.lastname: Maniati-Christidis
authors.forename: Catherine
authors.initials: C
authors.lastname: Dacou-Voutetakis