Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report

Abstract

Fibroblast growth factor receptors (FGFRs) are expressed in epiphyseal cartilage cells of developing bones and regulate endochondral bone formation with interdependent signaling pathways. Gene mutation in FGFRs disrupts the formation of endochondral bony structure by reducing the number of proliferating chondrocytes. Among the syndromes caused by mutation in the FGFR gene, Pfeiffer syndrome is a rare inherited disease characterized by acrocephalosyndactyly related to hypertelorism, broad pollex, and hallux. We describe the case of a 4-year-old girl with short stature, advanced bone age, wide thumbs and great toes. The patient was diagnosed with partial growth hormone deficiency and an identified mutation in the FGFR2 gene. Standard deviation score of her height increased after starting growth hormone therapy. This report will raise awareness of the growth hormone provocation test regardless of bone age in patients with short stature founded FGFR gene mutation.

A Modern View of the Peculiarities of Managing Children with Pfeiffer Syndrome (A Literature Review)

“…Выделяют несколько причин возникновения СП [9]. Чаще всего его развитие обусловлено дефектами в генах FGFR1 и FGFR2, которые отвечают за экспрессию рецепторов фактора роста фибробластов, участвующих в трансформации стволовых клеток в остеобласты во время эмбриогенеза [15]. Мутация в этих генах приводит к длительной передаче белковых сигналов, в результате чего происходит преждевременное сращение костей черепа и неправильное развитие конечностей [5].…”

Challenges in Communicating a Genetic Diagnosis

“…In this Special Issue, the authors explain the complexity of diagnosing and communicating diagnoses of rare genetic entities, such as Noonan Syndrome, MECP2 duplication syndromes, Nieman-Pick type C disease, Pompe disease, hypohidrotic ectodermal dysplasia, retropharyngeal synovial cell carcinoma, 22q.11.2 deletion syndrome, and Pfeiffer syndrome [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 ].…”