Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report
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Mónica Expósito Raspeño
,
Verónica Sánchez Escudero
,
Guiomar Pérez de Nanclares Leal
,
María Ortiz Santamaría
,
Rosa Sánchez-Dehesa Sáez
,
Beatriz García Cuartero
und
Amparo González Vergaz
Abstract
Objectives
Pseudohypoparathyroidism type 1A (PHP1A) encompasses the association of resistance to multiple hormones, features of Albright hereditary osteodystrophy and decreased Gsα activity. Little is known about the early signs of PHP1A, with a delay in diagnosis. We report two PHP1A cases and their clinical and biochemical findings during a 20-year follow-up.
Case presentation
Clinical suspicion was based on obesity, TSH resistance and ectopic ossifications which appeared several months before PTH resistance, at almost 3 years of age. Treatment with levothyroxine, calcitriol and calcium was required in both patients. DNA sequencing of GNAS gene detected a heterozygous pathogenic variant within exon 7 (c.569_570delAT) in patient one and a deletion from XLAS to GNAS-exon 5 on the maternal allele in patient 2. In patient 1, ectopic ossifications that required surgical excision were found. Noticeably, patient 2 displayed adult short stature, intracranial calcifications and psychomotor delay. In terms of weight, despite early diagnosis of obesity, dietary measures were established successfully in both cases.
Conclusions
GNAS mutations should be considered in patients with obesity, ectopic ossifications and TSH resistance presented in early infancy. These cases emphasize the highly heterogeneous clinical picture PHP1A patients may present, especially in terms of final height and cognitive impairment.
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Research ethics: Not applicable.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Research funding: None declared.
References
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Artikel in diesem Heft
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Artikel in diesem Heft
- Frontmatter
- Editorial
- Insulin for “hearts that had lost hope” – on the first pediatric patients and the 1923 Nobel Prize in Physiology or Medicine
- Reviews
- The effect of gonadotropin-releasing hormone analog treatment on the endocrine system in central precocious puberty patients: a meta-analysis
- Artificial intelligence in paediatric endocrinology: conflict or cooperation
- Original Articles
- A pilot study proposing an algorithm for pubertal induction in cerebral palsy
- Thyroid volume in Turkish school-age children living in an iodine-sufficient region
- Hypothyroxinemia and weight velocity in preterm infants
- Factors associated with neonatal hyperinsulinemic hypoglycemia, a case-control study
- Predictive factors for lung metastasis in pediatric differentiated thyroid cancer: a clinical prediction study
- Case Reports
- Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review
- Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration
- A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene
- Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature
- Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report
