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Updated: May 6, 2026
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Hypophosphatemia in pregnancy: A case report
Poojan Marwaha Dogra1, Bharti Bhavna1, Asmita Kaundal1
1Department of Obstetrics and Gynaecology, AIIMS, Bilaspur, Himachal Pradesh, India.
Summary
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder. Pregnancy can unmask ADHR symptoms, necessitating early diagnosis and management with phosphate and vitamin D supplementation for improved maternal outcomes.
Area of Science:
- Endocrinology
- Genetics
- Obstetrics
Background:
- Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder.
- It can cause significant discomfort, clinical deterioration, and reduced quality of life.
Observation:
- A 33-year-old pregnant woman presented with myalgia and bony pains.
- Biochemical evaluation revealed low phosphate and elevated FGF 23 levels.
- Gene sequencing confirmed autosomal dominant hypophosphatemic rickets (ADHR).
Findings:
- Pregnancy can act as a stressor, potentially unmasking previously asymptomatic ADHR.
- Musculoskeletal pain during pregnancy warrants a high index of suspicion for ADHR.
- Phosphate and vitamin D supplementation may alleviate symptoms.
Implications:
- Early diagnosis and management of ADHR in pregnancy can improve maternal experience.
- Further research is needed to understand ADHR's impact on pregnancy outcomes.
- Genetic counseling and newborn screening are crucial for affected families.
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