Le test aux androgènes : comparaison d''un test faible et d''un test fort sur le développement du pénis dans les pseudohermaphrodismes masculins

Background.

The androgen sensitivity test used in male pseudohermaphroditism for clinical assessment of the androgen sensitivity and prediction of penile development is an important element in choice of gender. However, there is a wide range of testosterone dosage and no standardized test.

Methods and patients.

Two doses (25 mg and 100 mg) of testosterone heptylate were used in six cases of male pseudohermaphrodism with sexual ambiguity and small penis (ages 6 to 18 months). The clinical results were compared with those of the study of androgen receptors.

Results.

In two cases, both low-dose and high-dose tests resulted in only minimal changes in the penis. In two cases, the low-dose test gave a good result which was confirmed by the high-dose test; on the other hand, in two cases, the low-dose test was considered to be negative whereas the high-dose test led to the development of a normal-sized penis. In all cases except one, there was good concordance between the results of study of androgen receptors and those of the clinical test.

Conclusion.

The high-dose androgen test is thus useful in both diagnosis and treatment and facilitates the gender assignment.     

Aetiology of neonatal conjunctivitis evaluated in a population‐based setting

Aim

Our aim was to study prospectively the aetiology of neonatal conjunctivitis in a population‐based setting.

Methods

Altogether 173 neonates with clinical conjunctivitis aged on average 20 (SD 10) days were recruited from child welfare clinics in Oulu, Finland, in 2010–2015. Conjunctival specimens were collected from 167 neonates for multiplex polymerase chain reaction to detect 16 respiratory viruses, from 163 for polymerase chain reaction to detect Chlamydia trachomatis and Neisseria gonorrhoeae and from 160 for bacterial culture studies. The cases were followed up until the age of 18 months.

Results

Viral conjunctivitis was diagnosed in 8/167 (4.8%; 95% CI 2.1–9.2%), chlamydial or gonococcal conjunctivitis in 0/163 cases (0%; 95% CI 0–2.2%) and other bacterial conjunctivitis in 58/160 (36%; 95% CI 29–44%). Rhinovirus was found at the ocular site in 4/167 (2.4%) neonates, adenovirus in 3/167 (1.8%) and bocavirus in 1/167 (0.6%). The most commonly isolated bacteria included Staphylococcus aureus (16%), Moraxella catarrhalis (9.4%) and Streptococcus pneumoniae (3.1%). None of these pathogens was associated with the 4/173 (2.3%) cases later operated on for persistent nasolacrimal duct obstruction.

Conclusion

Chlamydia trachomatis was a rare pathogen in neonatal conjunctivitis in a population‐based setting, but respiratory viruses were detected more frequently than indicated earlier.

     

Association d''une dysgénésie gonadique mixte et d''une forme non classique de bloc de la 21-hydroxylase

Background.

The rare association of mixed gonadal dysgenesis and non classical congenital hyperplasia by 21-hydroxylase deficiency poses the problem of their respective responsability in the development of sexual ambiguity.

Case report.

In a newborn with ambiguous genitalia, blood 17-OH progesterone was moderately elevated (3.9 to 14.1 ng/mL) leading to the diagnosis of non-classical 21 hydroxylase deficiency. Molecular studies later confirmed this diagnosis. However, the presence of a palpable gonad and the caryotype (45 X/46 XY mosaicism) indicated a mixed gonadal dysgenesis as the cause of sexual ambiguity. Histological examination revealed the presence of a testis and a streak gonad.

Conclusion.

This observation emphasizes the need for a complete clinical and biological analysis in all newborns with sexual ambiguity.     

Torsion testiculaire périnatale : à propos de dix cas

Perinatal testicular torsion (PTT) is a rare disease. Two entities have been described: prenatal or postnatal. The aim of this study is to recall the different etiopathogenic and histological features of this disease, to highlight the difficulties of diagnosis and discuss treatment modalities and finally to establish a treatment protocol of PTT.

Patients and methods

This is a retrospective study through which we studied 10 patients admitted in the pediatric surgery department of Monastir hospital between 1990 and 2009.

Results

Seven newborns had the antenatal testicular torsion form and three had the postnatal form. The main clinical symptom was the scrotal swelling. The controlateral vaginal hydrocele was found in 50% of cases. Doppler ultrasonography was performed in five cases and found a PTT with no blood flow in four of the five cases. The no surgical treatment was opted for a single patient and semi-urgent surgical treatment by scrotal incision has been practiced for the nine other cases. The PTT was extravaginal in all the cases. The surgical procedure consisted of an ipsilateral orchiectomy in 100% of cases and we have realized a contralateral orchiopexy in six of the nine cases operated. Pathological examination found a hemorrhagic infarction in seven cases and testicular necrosis in three cases. The postoperative and subsequent evolution was favorable in all cases.

Conclusion

The PTT is a rare disease occurring in utero and during the first month of life. Its pathogenesis is still poorly understood and the therapeutic approach is controversial.     

Croissance fœtale du prématuré de Haute-Normandie

Background.

Fetal growth standards of preterm infants are different from one study to another, especially for extremely preterm babies.

Population and methods.

Between 1976 and 1990, a cross-sectional study of the resulting intrauterine growth of premature newborns from Haute-Normandie (France) was conducted by collecting data of the compulsory health certificate set up in the first week after birth. In spite of exclusions, curves for obstetrical terms ranging from 28 to 36 weeks of gestational age were settled. Equivalents of 8,042 birth weights, 7,792 statures, 8,041 head circumferences and 6,737 ponderal index were used.

Results.

Comparing our results with those published in the literature, we observed short differences for mean or middle values: from less than 170 to more than 180 g for weight, from less than 1 to more than 2.6 cm for stature and from less than 1 to more than 1.9 cm for head circumference.

Conclusion.

The selected normal lower threshold for each parameter and the varieties of fetal growth inadequacy are under discussion.     

Étude du portage rhinopharyngé de Streptococcus pneumoniae et de sa sensibilité aux antibiotiques chez les enfants en bonne santé âgés de moins de 2 ans dans la région de Marrakech (Maroc)

The healthy carrier of Streptococcus pneumoniae (S. pneumoniae) has been studied very little at the national level. With the emergence of antibiotic-resistant strains worldwide, and the emergence of new serotypes, an epidemiological survey is needed before the vaccine can be introduced in Morocco.

Objectives

This study's objective was to determine the prevalence and risk factors of pneumococcal nasopharyngeal carriage in children less than 2 years of age in the Marrakech region and to assess the antibiotic susceptibility of the isolates and the serotypes present prior to the introduction of the conjugate pneumococcal vaccine.

Patients and methods

From 2008 to 2009, 660 nasopharyngeal samples were collected on children under 2 years of age during scheduled visits to dispensaries for routine immunization in the Marrakech region.

Results

S. pneumoniae carriage was found in 45.8% of children. Of the 660 samples, 302 strains were isolated. The percentage of pneumococcal strains with reduced susceptibility to penicillin (PRSP) was 34.7%. Among these strains, 87.1% showed low-level resistance and 12.9% high-level resistance. Resistance to amoxicillin was found in 3.3% of the strains and no strains were resistant to cefotaxime. Several risk factors for pneumococcal carriage were identified, the main ones being breastfeeding less than 2 months, the presence of more than one sibling, passive smoking, and low socioeconomic level. The most frequent serotypes were 19F, 6, 14, 23, 18, and 9. The study of the vaccine serotype distribution showed that the theoretical vaccine coverage of the 7 valent vaccines was at 57% for all the isolates.

Conclusion

These data show the frequency and the risk factors on nasopharyngeal carriage, and report the status of penicillin resistance of strains carrying children less than 2 years of age in the Marrakech region. The fluctuation of circulating serotypes at the national level underscores the importance of epidemiological surveillance carried out before the introduction of the heptavalent vaccine in Morocco.     

Screening of Pneumococcal Pneumonia by Amplification of Pneumolysin Gene in Children Visiting Hospitals in Lahore,Pakistan

Objective

Streptococcus pneumoniae is a common worldwide potential pathogen causing pneumonia among children and the detection of pneumococcal infections by conventional culturing techniques is cumbersome. The present study describes a comparative analysis of sensitive nested-PCR and bacterial culture in pediatric patients with clinical and radiological indication of S. pneumoniae infection.

Methods

PCR was performed using outer primers to amplify a 348-bp region and inner primers a 208-bp region of the pneumolysin gene. For pneumolysin PCR assay, DNA from peripheral blood and middle ear fluid (MEF) samples was extracted by salting out method. The sensitivity of the assay was evaluated with about 0.06 pg of purified S. pneumoniae genomic DNA.

Findings

Among 90 MEF culture negative samples from acute otitis media pediatric patients, 8.8% pneumolysin-PCR positivity was detected, demonstrating the sensitivity and reliability of PCR for rapid pneumonia evaluation. Binomial test of proportionality performed on (SPSS 17) gives P< 0.05 indicating that PCR technique is statistically significant and sensitive in the diagnosis of S. pneumoniae infection.

Conclusion

The research work evaluated the effectiveness and efficacy of nested-PCR for detecting S. pneumoniae in pediatric patients with clinical and radiological confirmation of bacterial infection. This simplified method permitted quick selection of the patients and played a significant role in preliminary management of pneumococcal infections.     

Post‐streptococcal acute glomerulonephritis associated with pneumococcal infection

Streptococcus pyogenes is the most common cause of post‐infectious glomerulonephritis. Described herein is the case of a 5‐year‐old girl with febrile post‐streptococcal acute glomerulonephritis (PSAGN) associated with pneumococcal bacteremia. The chief complaints were fever and macrohematuria without respiratory symptoms. Urinalysis indicated a protein level of 3+. Serological data showed elevated anti‐streptolysin O (ASO) and hypocomplementemia. Blood culture was positive for S. pneumoniae. Her acute renal failure was mild and improved over several days. Although PSAGN was confirmed by elevated ASO and transient hypocomplementemia, the clinical course was consistent with those of several reported cases of AGN associated with pneumococcal infection. To our knowledge, there have been few reports on the relationship between pneumococcal infection and the incidence of PSAGN. We suggest the hypothesis that pneumococcal infection itself could exaggerate the complement reaction leading to PSAGN. It is important to consider PSAGN associated with a microbial infection such as S. pneumoniae when faced with a febrile patient with AGN.     

<Emphasis Type="Italic">Mycoplasma pneumoniae</Emphasis> in Community-Acquired Lower Respiratory Tract Infections

Objective

To determine the role of Mycoplasma pneumoniae (M. pneumoniae) in pediatric lower respiratory tract infections (LRTIs) employing serological tests and polymerase chain reaction (PCR) analysis.

Methods

In this prospective study, 200 children aged 6 mo to 12 y hospitalized with acute LRTIs were investigated for M. pneumoniae. Serum samples were collected for serological analysis of M. pneumoniae. Throat swab samples were obtained on admission to amplify 277-base pair region of 16S rDNA gene of M. pneumoniae by PCR.

Results

In the present study, 40(26.1%) children <5 y and 28(59.5%) children ≥5 y age group were positive for M. pneumoniae infection and this difference was statistically significant (P?<?0.001). M. pneumoniae was positive in 32(41%) female and 36(29.5%) male children though this difference was statistically insignificant (P?=?0.12). The clinical profile across M. pneumoniae positive and negative cases were comparable except for presence of chest pain which was statistically significant (P?=?0.023). None of the radiological findings was statistically associated with incidence of M. pneumoniae infection. Serological evidence of acute M. pneumoniae infection was observed in 64(32%) patients with sensitivity 66.6% and specificity 70.1% while PCR positivity in 12(6%) patients with sensitivity 12.5% and specificity 97%. Together, serology and PCR detected M.pneumoniae infection in 68(34%) patients.

Conclusions

The present study underlines the role of M. pneumoniae in children with community- acquired LRTIs and more particularly in ≥5 y of age.

     

Aniridie et tumeur de Wilms : deux cas de néphroblastome fœtal rhabdomyomateux

Background.

Wilms tumor is associated in 7 to 10 % of patients with congenital abnormalities. Among those, aniridia is the most constant feature of the WAGR syndrome that includes, in one third of cases, Wilms tumor. We report two cases of aniridia associated with fetal rhabdomyomatous nephroblastoma.

Case reports.

Case 1. A one-year old girl with congenital aniridia was admitted for macroscopic hematuria. Abnormal ultrasonography and tomodensitometry revealed a large, bilateral, kidney tumor. The patient was given actinomycin and vincristine, without efficacy. Bilateral tumorectomy was performed 6 months later and the histological study showed a fetal rhabdomyomatous nephroblastoma. This patient is in remission at the age of 5. Case 2. A boy, also with congenital aniridia, presented with macroscopic hematuria at the age of 2 years revealing a nephroblastoma located on his right kidney. Preoperative chemotherapy remained uneffective and the nephrectomy performed 1 month later permitted the diagnosis of fetal rhabdomyomatous nephrolastoma. The patient is well 4 years later.

Conclusion.

Both cases of fetal rhabdomyomatous nephroblastoma, a histological variant of Wilms tumor, seem to be the first reported in the WAGR syndrome.