Pycnodysostosis: A Growth Hormone Responsive Skeletal Dysplasia

Sulaiman, Hafsa Omer; Thalange, Nandu

doi:10.1016/j.aace.2021.02.006

Cited by 6 publications

(3 citation statements)

References 15 publications

(48 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mouse models of pycnodysostosis defined that bone mass and trabecular thickness were increased in sella turcica like other areas of the skeleton, which caused an increase in sellar pressure, resulting in hypophyseal hypoplasia [17,18]. In support of this, clinical studies also reported that individuals with GH deficiency often have pituitary hypoplasia identified on MRI [3,6,14,19]. In cathepsin K deficient state such as pycnodysostosis, the degradation of several matrix-embedded growth factors, including IGF-I, were prevented.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis

Ünsal,

Atar

2023

Cureus

View full text Add to dashboard Cite

Introduction Pycnodysostosis is a rare osteosclerotic skeletal dysplasia; its clinical features include short stature, characteristic facial features, increased bone fragility, and acro-osteolysis of the distal phalanx. Lack of clear guidelines for treatment and follow-up in rare diseases such as pycnodysostosis with growth hormone (GH) deficiency poses a difficulty for the clinician. This study aims to identify clinical, radiological, and endocrine findings of patients with pycnodysostosis focusing on the first year of recombinant human growth hormone (rhGH) treatment response. The eminence of this study is that it presents clinical experience with rhGH, providing an approach for future similar cases. Methods Three girls and two boys from three different families diagnosed with pycnodysostosis via clinical, radiological, and genetic evaluation followed up in the pediatric endocrinology clinic between 2022 and 2023 were enrolled in this study. Clinical findings, anthropometric measurements (weight, height, body mass index [BMI]), and laboratory, radiological, and genetic examinations were evaluated retrospectively. Participants were evaluated for GH deficiency using L-DOPA and clonidine tests if growth rate was below -2 standard deviation score (SDS) for gender and age after one-year follow-up. Results Complaints on admission were short stature (80%) and recurrent bone fractures (20%). Characteristic facial features and brachydactyly were seen in all the patients. Median height SDS on admission was -3.0 (range: -1.9 to -3.8). Median height SDS on last clinic visit was -3.2 (range: -1.7 to -4.2) at a median age of 8 years (range: 3.5-14 years). BMI was normal in four patients, while one was overweight. Bone mineral densitometry z-score was high, and two patients had bone fractures following minor trauma, while one had recurrent fractures. Two siblings (first and second cases) and the third case were diagnosed with GH deficiency, and anterior pituitary hormones were normal otherwise. One had partial empty sella in hypophyseal magnetic resonance imaging. rhGH (33 mcg/kg/day, subcutaneously) was started. Growth rate of the first, second, and third cases increased from 3.3, 3.1, 3.9 to 5, 4.3, 7.2 cm/year, respectively. Prior to rhGH, two had adenoid hypertrophy which was stable following rhGH. Growth rate follow-up of the fourth case continues, while the fifth case, the only participant who has reached adult height, has normal height according to age and gender normative. Conclusion Although rare, pycnodysostosis should not be overlooked in a patient with characteristic facial features, disproportionate short stature, and recurrent fractures. GH deficiency should be evaluated early if growth rate is declining. rhGH may restore growth rate and the possibility of catch-up in growth in patients with pycnodysostosis and GH deficiency. Hence, after first year of rhGH, growth rate of patients with pycnodysostosis is lower when com...

show abstract

Section: Discussionmentioning

confidence: 99%

Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis

Ünsal,

Atar

2023

Cureus

View full text Add to dashboard Cite

show abstract

“…Other clinical features include wrinkled skin, nail abnormalities, and sleep apnea [ 40 ]. Laboratory testing in pyknodysostosis reveals a normal serum calcium, phosphate, alkaline phosphatase, and vitamin D. Growth hormone deficiency and low insulin-like growth factor-1 level are also common findings [ 41 , 42 ].…”

Section: Sclerosing Disordersmentioning

confidence: 99%

“…Surgical intervention may be required to treat fractures, craniofacial and spine abnormalities. Growth hormone therapy can treat GH deficiency and short stature while restoring body proportions [ 41 , 42 ]. Obstructive sleep apnea can be managed with surgical treatment or ventilatory support [ 43 ].…”

Section: Sclerosing Disordersmentioning

confidence: 99%

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management

Charoenngam

Nasr

Shirvani

et al. 2022

Genes

View full text Add to dashboard Cite

Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represent each of the three groups, including sclerosing bone disorders, disorders of defective bone mineralization and disorder of bone matrix and cartilage formation. We also review pathophysiology, manifestation and treatment for each disease. Advances in molecular genetics and basic sciences has led to accurate genetic diagnosis and novel effective therapeutic strategies for some diseases. For other diseases, the genetic basis and pathophysiology remain unclear. Further researches are therefore crucial to innovate ways to overcome diagnostic challenges and develop effective treatment options for these orphan diseases.

show abstract