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2018 ; 18
(2
): 42-47
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Three cases of transient neonatal pseudohypoparathyroidism
#MMPMID30799898
Kutilek S
; Vracovska M
; Pecenkova K
; Brozikova H
; Rondzikova E
; Boskova E
; Pikner R
; Fejfarkova Z
Sudan J Paediatr
2018[]; 18
(2
): 42-47
PMID30799898
show ga
Neonatal hypocalcemia is defined as serum calcium (S-Ca) < 2.0 mmol/l in
full-term newborns and <1.75 mmol/l in preterm newborns. Neonatal hypocalcemia is
either early onset (<3 days of age) or late onset (>3 days of age). Newborns with
hypocalcemia are often asymptomatic but may present with hypotonia, apnea, poor
feeding, jitteriness, seizures, and cardiac failure. Signs of hypocalcemia rarely
occur unless S-Ca drops below 1.75 mmol/l. Neonatal hypocalcemia can be a result
of hypoparathyroidism (transient or primary), increased serum calcitonin, sepsis,
asphyxia, hepatopathy, hypomagnesemia, high phosphate load, transient
hypoparathyroidism, and, rarely, transient neonatal pseudohypoparathyroidism
[transient resistance to biological actions of parathyroid hormone (PTH)]. We
present the case of three boys (two with gestational age 39 weeks, one 36 weeks;
none of them with either asphyxia or sepsis) with mild hypotonia, where S-Ca in
the range of 1.67-1.9 mmol/l was detected within the first 3 days of life,
together with hyperphosphatemia [serum phosphate (P) 2.5-2.6 mmol/l],
normomagnesemia [serum magnesium (S-Mg) 0.77-0.88 mmol/l], normal alkaline
phosphatase (ALP) activity (2.8-4.5 ?kat/l), and high serum PTH (40-51 pg/ml;
normal = 5-28). In spite of the gradual increase of S-Ca, the elevated serum PTH
persisted beyond days 3, 4, and 6 in all three boys, together with normal or
low-to-normal S-Ca, high or normal-to-high serum P, and no increases in serum
ALP. The mothers S-Ca, P, Mg, ALP, and PTH levels were within normal reference
ranges. With regard to laboratory results, the diagnosis of transient neonatal
pseudohypoparathyroidism (due to immaturity of PTH-receptors) is highly probable
in these three neonates.