Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism
Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormo...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2025-01-01
|
| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Subjects: | |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2025/1/EDM-24-0097.xml |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832539692491341824 |
|---|---|
| author | Ragini Kondetimmanahalli Jane Lynch Gary Francis Heather Gardner Radhika Pillai |
| author_facet | Ragini Kondetimmanahalli Jane Lynch Gary Francis Heather Gardner Radhika Pillai |
| author_sort | Ragini Kondetimmanahalli |
| collection | DOAJ |
| description | Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess. However, reduced growth velocity can also occur as the first sign of chronic anemia, malnutrition, deprivation (psychosocial dwarfism), chromosomal abnormalities, genetic syndromes and inflammatory bowel diseases. For the primary care provider, simple measures of standing height, sitting height, arm span, weight, body mass index (BMI) and bone age (BA) will lead to the correct diagnosis in most short children. Screening laboratory studies for endocrine disorders, a skeletal survey if skeletal disproportion is evident, a karyotype or microarray (microarray favored if developmental delay is also present) and genetic testing for monogenic disorders will lead to a specific diagnosis in an additional subset of short children. This case presented a diagnostic dilemma that spanned all these possibilities and served as a focal point for the review of normal growth and growth abnormalities. |
| format | Article |
| id | doaj-art-802508d970f74fedb34ad13cafb81b81 |
| institution | Kabale University |
| issn | 2052-0573 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrinology, Diabetes & Metabolism Case Reports |
| spelling | doaj-art-802508d970f74fedb34ad13cafb81b812025-02-05T10:17:18ZengBioscientificaEndocrinology, Diabetes & Metabolism Case Reports2052-05732025-01-012025110.1530/EDM-24-00971Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidismRagini Kondetimmanahalli0Jane Lynch1Gary Francis2Heather Gardner3Radhika Pillai4Long School of Medicine, University of Texas Health Science Center San Antonio, San Antonio, Texas, USADivision of Pediatric Endocrinology and Diabetes, University of Texas Health Science Center San Antonio, San Antonio, Texas, USADivision of Pediatric Endocrinology and Diabetes, University of Texas Health Science Center San Antonio, San Antonio, Texas, USADepartment of Pediatrics, University of Texas Health Science Center San Antonio, San Antonio, Texas, USADivision of Pediatric Endocrinology and Diabetes, University of Texas Health Science Center San Antonio, San Antonio, Texas, USAShort stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess. However, reduced growth velocity can also occur as the first sign of chronic anemia, malnutrition, deprivation (psychosocial dwarfism), chromosomal abnormalities, genetic syndromes and inflammatory bowel diseases. For the primary care provider, simple measures of standing height, sitting height, arm span, weight, body mass index (BMI) and bone age (BA) will lead to the correct diagnosis in most short children. Screening laboratory studies for endocrine disorders, a skeletal survey if skeletal disproportion is evident, a karyotype or microarray (microarray favored if developmental delay is also present) and genetic testing for monogenic disorders will lead to a specific diagnosis in an additional subset of short children. This case presented a diagnostic dilemma that spanned all these possibilities and served as a focal point for the review of normal growth and growth abnormalities.https://edm.bioscientifica.com/view/journals/edm/2025/1/EDM-24-0097.xmlpseudohypoparathyroidismcongenital hypothyroidismshort staturegrowth hormone deficiency |
| spellingShingle | Ragini Kondetimmanahalli Jane Lynch Gary Francis Heather Gardner Radhika Pillai Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism Endocrinology, Diabetes & Metabolism Case Reports pseudohypoparathyroidism congenital hypothyroidism short stature growth hormone deficiency |
| title | Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism |
| title_full | Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism |
| title_fullStr | Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism |
| title_full_unstemmed | Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism |
| title_short | Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism |
| title_sort | pseudohypoparathyroidism type 1a presenting as short stature and congenital hypothyroidism |
| topic | pseudohypoparathyroidism congenital hypothyroidism short stature growth hormone deficiency |
| url | https://edm.bioscientifica.com/view/journals/edm/2025/1/EDM-24-0097.xml |
| work_keys_str_mv | AT raginikondetimmanahalli pseudohypoparathyroidismtype1apresentingasshortstatureandcongenitalhypothyroidism AT janelynch pseudohypoparathyroidismtype1apresentingasshortstatureandcongenitalhypothyroidism AT garyfrancis pseudohypoparathyroidismtype1apresentingasshortstatureandcongenitalhypothyroidism AT heathergardner pseudohypoparathyroidismtype1apresentingasshortstatureandcongenitalhypothyroidism AT radhikapillai pseudohypoparathyroidismtype1apresentingasshortstatureandcongenitalhypothyroidism |