Annales de pediatrie最新文献

To evaluate the heterogeneity of 21-hydroxylase deficiency with delayed symptoms, clinical and laboratory findings at presentation in 29 patients whose first symptoms occurred after three years of age were analyzed retrospectively. In 12 patients, these data were confronted with the results of molecular CYP21B gene analysis. Age at onset was 7 years on average and was comparable in boys and girls. Premature puberty was the most common presenting symptom [n = 24], whereas hirsutism, clitoral enlargement, and menstruation disorders were less frequent. Six cases were diagnosed as the result of routine studies of family members of index patients. The bone age over statural age ratio was greater than 1 in 19 of the 27 patients. Baseline 17-OH-progesterone levels were elevated in 22 of the 27 patients; magnitude of the elevation varied widely. Levels of 17-OH-progesterone after stimulation with immediate-action tetracosactide were closely correlated with baseline values and established the diagnosis in doubtful cases. Four patients had post-stimulation 17-OH-progesterone levels under 10 ng/ml, suggesting that were heterozygous for the disease. An important finding was that the magnitude of the devation in 17-OH-progesterone was not clearly correlated with clinical findings at presentation (age at onset, growth rate, advance in bone age). Molecular CYP21B gene analysis performed in 12 patients disclosed a homozygous 281 Val Leu mutation in 6 cases. This is the most commonly reported mutation in delayed onset forms. Two patients were heterozygous for the 281 Val Leu mutation and had an allele associated with severe disease, suggesting that the least severely affected chromosome governed clinical presentation of the disease. One boy had an allele associated with neonatal onset on both chromosomes; molecular analysis indicated a risk of antenatal masculinization of female fetuses in this family. This study showed that delayed onset 21-hydroxylase deficiency is a heterogeneous entity and that molecular analysis is essential to genetic counseling.

A retrospective multicenter study found 58 cases of Klinefelter syndrome of which 23 (39%) were diagnosed before puberty. Although as common as Down syndrome, Klinefelter syndrome is underdiagnosed and often recognized only in adulthood. Suggestive manifestations in infants, children, and teenagers include facial dysmorphism, micropenis, and delayed speech and should lead to examination of the karyotype. Early recognition of Klinefelter syndrome could be achieved by routinely measuring the size of the testes in school-boys aged 11 to 15 years and performing a karyotype in boys with a volume of less than 2 ml. Early psychological and educational support and testosterone replacement therapy initiated at onset of puberty may lead to improved social and academic outcomes.

The efficacy and safety of ear drops containing phenazone and lidocaine hydrochloride (Otipax) for the treatment of congestive myringitis were evaluated in 18 infants and children aged 1 to 10 years. Relief of pain was evident 5 minutes after instillation and significant after 15 to 30 minutes. Serial photographs of the tympanic membrane demonstrated prompt improvement of inflammation. Congestion was significantly reduced after five minutes and overall ear drum color was significantly improved after 15 to 30 minutes. No adverse effects were recorded. These data suggest that Otipax is effective and safe for the treatment of painful congestive myringitis in infants and children.

Bone mineralization and serum osteocalcin level were evaluated in 15 children with Grave's disease. Two groups were constituted according to the presence (group I: n = 9) or absence (group II: n = 6) of a severe bone demineralization. A spontaneous fracture and a collapsed vertebra were found in one group I patient. Patients in group I were younger than in group II (8.3 +/- 4.9 vs 11.5 +/- 4.3 yrs). One patient in group II and six in group I were prepubertal with advanced bone age and increased growth velocity. Osteocalcin measurement (Oc) was performed in 10 patients (group I: n = 6; group II: n = 4) at the time of biological hyperthyroidism. The six patients with bone demineralization had elevated Oc levels. In group II, two patients had normal Oc levels and two had elevated Oc levels. In treated patients with good control of hyperthyroidism, all group II patients except one, had normal serum Oc levels and bone mineralization remain normal (n = 5) after 0.6 to 4.6 yrs of follow-up. In group I patients, although height velocity was normal, elevated (n = 4) or slightly elevated (n = 1) serum Oc levels and severe bone demineralization (n = 7 cases) persisted after 0.5 to 3 yrs of good control of the hyperthyroidism. Although the method used for measuring bone mineralization is potentially less precise than bone densitometry and not all the patients had serum osteocalcin measurements at the same time of the illness, our results emphasize that skeletal demineralization may be particularly marked in young children with Grave's disease and should be carefully evaluated.

Bone marrow transplants are being increasingly used to treat a broadening spectrum of serious pediatric conditions including hematologic, metabolic, and immune disorders. A common adverse effect is slowing of statural growth which, according to the author's experience, reaches 0.4 SD a year on average in the highest risk group with progressive graft-versus-host disease after whole body irradiation and transplantation of an allograft. Growth was normal in autograft recipients treated by moderate-intensity chemotherapy. High-dose chemotherapy, in particular with busulfan and cyclophosphamide, has been reported to cause growth retardation. The mechanism of failure to gain height is complex. Partial growth hormone deficiency is rare. Relative resistance of growth plates is the most likely mechanism. The role and efficacy of growth hormone replacement therapy is unclear. Conditioning regimens can affect ovarian and testicular function. Peripheral thyroid resistance can occur after whole body irradiation and transplantation of an allograft. The high rate of growth and endocrine disorders warrants close monitoring including full evaluations of growth and pubertal development as well as periodic endocrinologic investigations.

The syndrome of generalized resistance to thyroid hormones is being increasingly diagnosed, albeit often belatedly. In the two families described herein the diagnosis was established when moderately elevated thyrotropin levels were found upon neonatal screening of a family member. The family studies identified other affected members with a pattern indicating autosomal dominant inheritance. Clinical and laboratory findings in the neonates were consistent with normal thyroid function and no treatment was given. In one neonate, fibroblast nuclear receptor studies failed to detect decreased affinity for triiodothyronine, a finding reported in most previously published cases; the mutation in this patient was different from the one described in 1989 by Sakurai et al., consistent with the known genetic heterogeneity of this syndrome. It has been suggested recently that treatment of affected neonates with large doses of thyroid hormones is safe and effective in ensuring normal growth. The neurodevelopmental effects of this treatment are unknown. Early treatment is possible when the syndrome is detected neonatally. We therefore advocate routine T4 assays in neonates with moderately elevated TSH levels.

This study was designed to evaluate the diagnostic, therapeutic, and pathogenetic data provided by magnetic resonance imaging (MRI) in nonneoplastic hypothalamo-pituitary disorders. After determination of age-specific pituitary heights, 46 children with idiopathic growth hormone deficiency (GH peak < 8 ng/ml) were studied. Twenty-nine patients (group I) had pituitary stalk interruption syndrome and 17 (group II) had no anatomic abnormalities. Age-specific pituitary height was decreased by more than 2 SDs in all group I patients versus only 60% (10/17) of group II patients. The GH deficiency was transient in 4 of the 7 children with normal pituitary findings. Forty-seven girls with breast development before eight years of age were also studied: age-specific pituitary height was normal in all girls with premature thelarche and 68% of girls with mild form of central precocious puberty (CPP). Conversely, in 70% of girls with evolutive CPP, age-specific pituitary height was increased by more than 2 SDs. These data show that MRI is useful for the diagnosis of pituitary insufficiency and that multiple anterior pituitary deficiencies can be expected in patients with anatomic abnormalities. MRI is of diagnostic and prognostic usefulness in CPP and, therefore, is of assistance in making therapeutic decisions.

The effect of growth hormone (GH) treatment on prepubertal gonads is controversial especially with regard to the risk of precocious puberty. Ultrasound assessment of ovarian volume, follicle size, and uterine growth was performed in 20 premenarcheal girls (8.0 +/- 2.6 years) receiving growth hormone (GH) for short stature (-2.8 +/- 0.4 SD) not related to growth hormone deficiency or Turner syndrome. Mean GH dosage was 1.0 +/- 0.4 IU/kg/week and mean duration of treatment at evaluation was 16.3 +/- 8.9 months. All patients underwent real time ultrasonography of the pelvic organs and ten subjects also had color Doppler studies of the ovarian and uterine arteries. Ultrasound findings were similar to those reported in normal prepubertal girls. Mean uterine length (29.1 +/- 7.5 mm) and volume (1.23 +/- 0.86 ml) were correlated with age but not with dosage or duration of GH treatment. Ovarian volumes was within the normal age-specific range in all patients except a 7.9 year old girl with substantially enlarged ovaries (4.7 ml) but no evidence or precocious puberty. Ovarian follicles were found in five girls; they measured less than 9 mm in diameter in every case except one (13 mm follicle in an 11-year-old). Blood flow in the ovarian arteries was seen on 5 of the 10 color Doppler studies and was not correlated with dosage or duration of GH treatment. Administration of GH to non-GH-deficient girls did not substantially affect the internal genital organs. It remains uncertain whether the single case of ovarian enlargement seen was related to GH treatment.(ABSTRACT TRUNCATED AT 250 WORDS)

Helicobacter pylori gastritis usually manifests as recurrent abdominal pain but is sometimes discovered upon evaluation for digestive tract bleeding with severe anemia. An 11-year-old who was not under medication and had no history of pain was admitted for isolated regenerative anemia (5.6 g/dl) due to digestive tract bleeding. Laboratory tests showed only low serum iron and ferritin levels. Endoscopy disclosed hemorrhagic inflammation of the duodenal cap and antritis with a hillocky appearance. The diagnosis of H. pylori infection was established on the basis of the finding of curved Gram-negative rods on the smears and of a positive urea test. There was moderate interstitial antritis. The patient was given an H2 antagonist (ranitidine) and amoxicillin with tinidazole for six weeks. Serum IgG antibodies against H. pylori were found in the child's parents and siblings, with the exception of a 7 month old infant. A ten year old sister had been hospitalized two years earlier for hemorrhagic duodenitis ascribed at the time to use of acetylsalicylic acid. H. pylori has been reported in 40% to 95% of pediatric patients with primary gastritis. Physicians should be familiar with this frequent, often familial disease. Management rests on concomitant administration of two antimicrobials and an acid secretion inhibitor to the index patient and family members. Endoscopy is too invasive to be appropriate for monitoring the outcome. In practice, recovery is affirmed on the basis of resolution of clinical manifestations and decreased levels of anti-H. pylori antibodies.

Apple-peel jejunal atresia is a rare digestive tract congenital defect often accompanied with a short gut. Two cases managed by a three-stage medical and surgical approach are reported. A protein hydrolysate-jejunal secretion mixture was drip-fed through the distal ileostomy to stimulate trophicity of the distal gut.