Table 1 Pre- and post-natal clinical findings in two subjects with THNP associated with TRPV6 gene mutations
From: Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism
Maternal/paternal age (years) | Prenatal ultrasound findings | GA at delivery (weeks) | Birth wt/lg/OFC (percentile) | Ionized calcium mmol/L (1.1–1.3) | Phosphorus mmol/L (1.6–2.6) | PTH pmol/L (1–6.9) | 25OH vitamin D nmol/L (75–200) | Maternal 25OH vitamin D nmol/L (75–200) | Thorax hypoplasia and Respiratory dysfunction | Age at complete resolution of skeletal abnormality | |
|---|---|---|---|---|---|---|---|---|---|---|---|
Subject 1 (male) | 39/44 | Short, bell-shaped chest; short ribs, polyhydramnios | 36 | < 3rd/< 3rd/97th, > 95th | 1.01 | 1.90 | 145.4 | 30.0 | 22.5 | Yes | Still abnormal but substantial improvement |
Subject 2 (male) | 29/30 | No abnormalities detected | 38 | < 3rd/40–50rd/92nd, > 90th | 0.92 | 2.00 | 9.7 | 34.9 | 108.8 (1.4 mo) | Yes | 1.8 years |