Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant
1
Department of Pediatrics, School of Medicine, Kyungpook National University, Daegu 37224, Korea
2
Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Daegu 37224, Korea
3
Department of Laboratory Medicine, Pusan National University School of Medicine, Pusan National University Yangsan Hospital, Yangsan 50612, Korea
4
Department of Pediatrics, Yeungnam University School of Medicine, Yeungnam University Hospital, Daegu 42415, Korea
*
Author to whom correspondence should be addressed.
Academic Editors: Dimitrios T. Papadimitriou, Nicoletta Iacovidou, Nikos F. Vlahos and George Mastorakos
Children 2022, 9(5), 723; https://0-doi-org.brum.beds.ac.uk/10.3390/children9050723
Received: 30 March 2022
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Revised: 10 May 2022
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Accepted: 11 May 2022
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Published: 15 May 2022
(This article belongs to the Collection Novel Treatments, Approaches, Prevention Strategies and Insights in Pediatric, Adolescent, and Gynecological Endocrinology)
Pseudohypoparathyroidism (PHP) is a rare, heterogeneous disorder characterized by end-organ resistance to parathyroid hormone (PTH). PTH resistance causes elevated PTH levels, hypocalcemia, and hyperphosphatemia. Since hypocalcemia causes life-threatening events, early diagnosis is crucial. However, the diagnosis of PHP is elusive during infancy because PHP is usually diagnosed with hypocalcemia-induced symptoms, which develop later in childhood when calcium requirements increase. A 1-month-old girl was referred to our clinic for elevated thyroid-stimulating hormone (TSH) levels on newborn screening. When measured 1 month after levothyroxine treatment, her TSH level normalized. At 4-months-old, multiple hard nodules were noted on her trunk. A punch skin biopsy revealed osteoma cutis associated with Albright’s hereditary osteodystrophy, a major characteristic of PHP. We performed targeted sanger sequencing of the GNAS gene and detected a heterozygous variant c.150dupA (p.Ser51Ilefs*3) in both the proband and her mother, causing frameshift and premature termination mutations. The patient was diagnosed with PHP Ia when she had normal calcium, phosphorous, and PTH levels. We report the early diagnosis of PHP Ia without hypocalcemia. It emphasizes the importance of meticulous physical examination in patients with congenital hypothyroidism.
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Keywords:
pseudohypoparathyroidism; GNAS; albright’s hereditary osteodystrophy; osteoma cutis; hypothyroidism
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MDPI and ACS Style
Hwang, S.K.; Shim, Y.J.; Oh, S.H.; Jang, K.M. Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant. Children 2022, 9, 723. https://0-doi-org.brum.beds.ac.uk/10.3390/children9050723
AMA Style
Hwang SK, Shim YJ, Oh SH, Jang KM. Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant. Children. 2022; 9(5):723. https://0-doi-org.brum.beds.ac.uk/10.3390/children9050723
Chicago/Turabian StyleHwang, Su K., Ye J. Shim, Seung H. Oh, and Kyung M. Jang. 2022. "Early Diagnosis of Pseudohypoparathyroidism before the Development of Hypocalcemia in a Young Infant" Children 9, no. 5: 723. https://0-doi-org.brum.beds.ac.uk/10.3390/children9050723
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