ArticleJournal of clinical research in pediatric endocrinology2020
A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment
Article in Journal of clinical research in pediatric endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- From genotype to phenotype: the impact of early management in pycnodysostosis.Endocrinology, diabetes & metabolism case reports · 2025Article
- Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis.Hormone research in paediatrics · 2025Article
- Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.Frontiers in endocrinology · 2025Review
- Clinical and radiographic characteristics of pycnodysostosis: A systematic review.Imaging science in dentistry · 2024Review
- A Novel Osteochondrodysplasia With Empty Sella Associates With aFrontiers in endocrinology · 2022Article
- Article
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pycnodysostosis is a rare autosomal recessive osteosclerotic bone disorder associated with short stature and multiple bony abnormalities. Growth hormone (GH) deficiency may contribute to short stature in about 50% of patients. Available literature has rarely reported other pituitary hormone deficiencies in pyknodysostosis. Though the management remains conservative, recombinant human GH (rhGH) has been tried in selected patients. Here we present a case of pycnodysostosis which was evaluated for associated co-morbidities and found to have multiple pituitary hormone deficiencies. A 7-year-old girl was referred to our centre for evaluation of short stature. On examination, she had frontal and occipital bossing, limited mouth opening, hyperdontia with multiple carries, short and stubby digits and short stature. Investigation revealed dense sclerotic bones with frontal and occipital bossing, non-fusion of sutures with obtuse mandibular angle, non-pneumatised sinuses, small ‘J’ shaped sella turcica, acro-osteolysis of digits and absent medullary cavities.
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