There are conflicting data regarding the potential impact of chronic glucocorticoid (GC) therapy on the bone mineral density of patients with congenital adrenal hyperplasia (CAH). Previous studies performed by dual-energy X-ray absorptiometry reported conflicting results. The purpose of this study was to assess the impact of chronic GC replacement treatment in children with classical and non classical CAH due to 21-hydroxylase deficiency (21-OHD) by quantitative ultrasonometry (QUS), an easy, cheap, and radiation-free technique. The study population consisted of nineteen 21-OHD patients (nine males) on lifelong GC treatment. Anthropometric, hormonal, and treatment data were recorded for each patient, and bone quality was assessed by QUS measurements. QUS findings (amplitude-dependent speed of sound and bone transmission time) were normal in 21-OHD patients and did not correlate with duration of treatment, daily, total, and yearly hydrocortisone dose. Furthermore, no significant correlation was found between QUS findings and 17α-hydroxy progesterone, Δ4-androstenedione, and testosterone levels. In conclusion, our results provide reassurance that currently used replacement doses of GC do not have a major impact on bone in patients with CAH. QUS seems to be a reliable tool for screening of bone health in children with 21-OHD.
Situs inversus viscerum is a rare congenital anomaly (incidence 1/15–20 000) in which organs are mirrored from their normal positions. It is called situs inversus viscerum totalis when there is a total transposition of abdominal and thoracic viscera. Incomplete situs inversus viscerum involves transposition only of abdominal organs and is more frequently associated with congenital cardiac defects (90%–95% vs 5%–10% in situs inversus totalis). About 25% of individuals with situs inversus have an underlying condition known as Kartagener Syndrome. As a result of benign pathology, patients with situs inversus viscerum can live normal healthy lives. Situs viscerum inversus can be associated with defects in various organ systems (respiratory, GI tract, genitourinary). In literature there’s evidence of cases of situs inversus associated with renal malformations (dysplasia, hypoplasia, ectopia, polycystic kidney, horseshoe kidney). Association with renal agenesis is rare. We report the case of S., born at 40 weeks, eutocic delivery. APGAR 8/9, weight 3350 g. Normal fetal US. In the third day of life, heart sounds better heard on the right side of the chest. Cardiac US: situs inversus viscerum, dextrocardia, subaortic stenosis, restrictive ventricular septal defect, atrial septal defect ostium secundum. In the fourth day of life, abdominal US findings were suggestive of right renal agenesis. In the 20th day of life, right reducible inguinal hernia. The little patient underwent cystography, negative for vesicoureteral reflux, and static renal scintigraphy with evidence of absent activity in right renal space. Renal function, cerebral US, audiologial assessment and karyotype were normal. No respiratory distress reported. Mucociliary clearance test and a regular follow-up are scheduled.
We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphisms and postnecrotic cirrhosis, diagnosed at birth as having Seckel syndrome, and subsequently confirmed as Majewski osteodysplastic primordial dwarfism type II (MOPD II) on the basis of clinical and radiological features of skeletal dysplasia. At our observation (6 years 7 months) he presented height -10.3 standard deviation score (SDS), weight -22.1 SDS, head circumference -8 SDS, delayed bone age of 4 years with respect to chronological age. In consideration of the low levels of insulin-like growth factor-1 (IGF-1) as well as of hepatic insufficiency, we started the treatment with recombinant human IGF-1 (rhIGF-1) at the dose of 0.04 mg/kg in 2 doses/day, with an increase of 0.04 mg/kg after 1 week until the maximum dose of 0.12 mg/kg. We observed an early response to rhIGF-1 treatment, with a shift of height velocity from 1.8 cm/year (-4.6 SDS) at 4 cm/year (-1.9 SDS), and an increase in bone age of 1.5 years during the first 6 months. rhIGF-1 treatment does not seem to be able to replace the physiological action of IGF-1 in patients with MOPD II and hepatic insufficiency, however, it seems to preserve the typical growth pattern of MOPD II patients, avoiding a further widening of the growth deficiency in these subjects.
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