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- Title
IGFA Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment.
- Authors
Verma, Vishesh; Singh, R. K.
- 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. Cathepsin-K gene mutation analysis confirmed the diagnosis of pycnodysostosis. She was screened for associated co-morbidities and was found to have concomitant GH deficiency. Treatment with rhGH brought about an increase of 1 standard deviation score in height over 2 years and also unmasked central hypothyroidism at three months necessitating thyroxine replacement.
- Subjects
HYPOTHYROIDISM treatment; INBORN errors of metabolism; METALS in the body; MUSCULOSKELETAL system abnormalities; GENETIC mutation; PITUITARY hormones; RARE diseases; STATURE; THYROXINE; COMORBIDITY; HUMAN growth hormone; TREATMENT effectiveness; MULTIPLE epiphyseal dysplasia
- Publication
Journal of Clinical Research in Pediatric Endocrinology, 2020, Vol 12, Issue 4, p444
- ISSN
1308-5727
- Publication type
Article
- DOI
10.4274/jcrpe.galenos.2020.2019.0194