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Le Touquet – Paris-Plage, France

Kayemba-Kay's S.,Unite dEndocrinologie Pediatrique
Swiss medical weekly : official journal of the Swiss Society of Infectious Diseases, the Swiss Society of Internal Medicine, the Swiss Society of Pneumology | Year: 2010

To evaluate the effects of maternal smoking during pregnancy on foetal growth in preterm infants with gestational age (GA) <33 weeks. Prospective observational cross-sectional study from two French perinatal networks cohort of preterm infants. Cases were 358 very preterm infants (GA 24-32 weeks) divided into two groups as maternal smokers (129) and non-smokers (229). 361 term infants (GA 37-41 weeks) also divided into two groups as maternal smokers (129) and non-smokers (232) served as comparison group (controls). We studied the influence of maternal smoking on foetal anthropometric growth parameters (BW, BL and head circumference defined according to AUDIPOG curves) in groups and compared cases and controls. Other causes of foetal growth restriction were excluded. Maternal characteristics (age, height, pre-pregnancy body weight, parity, foetus sex) were similar in both groups and sub-groups. Mothers who smoked were younger (P <0.001), more likely to be unemployed (P <0.001) and to have undergone less school education (P <0.001). Smoking did not alter foetal growth in preterm infants: maternal smokers versus non-smokers BW (P = 0.52), BL (P = 0.44) and HC (P = 0.81). Growth restriction was marked in term infants with BW (P <0.001), BL (P <0.001) and HC (P <0.01). In multivariate analysis, after adjustment for other confounding factors, foetal growth appeared to be significantly altered by maternal smoking during pregnancy only in term infants. Our study suggests that effects of maternal smoking during pregnancy on foetal growth are gestational age-dependent. Source

El Moussaif N.,Service dendocrinologie diabetologie | Haddad N.E.,Service dendocrinologie diabetologie | Iraqi N.,Service dendocrinologie diabetologie | Gaouzi A.,Unite dEndocrinologie Pediatrique
Annales d'Endocrinologie | Year: 2011

Introduction: The mosaicism 45, X/46, XY is a gonosomal abnormality characterized by a broad phenotypic spectrum, ranging from women with or without Turner syndrome stigmata, to men apparently normal, passing by the ambiguous phenotypes with variable virilisation of external genitalia. From the histological point of view, several situations may arise. Patients and methods: We analyzed the clinical, hormonal, sonographic, and genitographics data, as well as peroperative and histological findings for five cases of mosaicism 45, X/46, XY, and we discussed treatment performed. Results: The mean age of patients was 6.6. years, two had a female phenotype with clitoral hypertrophy (one of them had Turner syndrome stigmata), one had a normal male phenotype with bilateral cryptorchidism and two had an ambiguity of external genitalia assigned to male. Short stature was noted for four patients. Surgical exploration concluded to the diagnosis of mixed gonadal dysgenesis for four of our patients. No cases of gonadoblastoma have been reported, for girls a prophylactic gonadectomy was performed, for boys the streak gonad was resected and the dysgenetic testis biopsied and preserved, subject for constant monitoring. Conclusion: This heterogeneity indicate the importance of an accurate clinical and histological evaluation of any patient presenting with 45, X/46,XY mosaicism. © 2011 Elsevier Masson SAS. Source

Maniar S.,Sina | Azzi K.,Sina | Iraqi H.,Sina | El Hassan Garbi M.,Sina | And 2 more authors.
Annales d'Endocrinologie | Year: 2011

The hemihypertrophy or hemihyperplasy is a rare congenital abnormality, characterized by an asymmetric growth of the limbs, the trunk, and the face or half of the entire body. It may be isolated or be part of several syndromes including Beckwith-Wiedemann syndrome, Klippel-Trenaunay-Weber syndrome, Silver-Russell syndrome and Proteus syndrome. In its isolated form, it is called idiopathic. The latter may be associated with several anomalies including dermatological and urogenital abnormalities with increased risk of developing embryonal tumors. We report the case of a 22-month-old infant, who was referred by his pediatrician at the age of 15 months for a corporeal hemihypertrophy associated with hemihypertrichosis. In his medical history, a second degree parental consanguinity and a hypospadias in the father and a paternal uncle were found. Clinical examination found a weight and a size greater than chronological age (3 standard deviations), a hemihypertrophy of entire left side with a difference of length and diameter between the left and right limbs of 2. cm. The hemihypertrichosis was widespread in the left body and the genital examination found a hypospadias. Biological and radiological assessments did not show any abnormality, with the exception of an initially high plasma testosterone level, which gradually normalized. Thus, the diagnosis of idiopathic hemihypertrophy with congenital hemihypertrichosis was retained. This is the fourth case reported in the literature. Its management is similar to all hemihypertrophies, which consists of an initial assessment to detect an embryonic tumor, followed by a monitoring protocol including an abdominal and renal ultrasound every 6 months until the age of 8, determination of alpha-feto-protein every 6 to 12 weeks until the age of 4 years to track the development of the two most frequent tumors: Wilms tumor and hepatoblastoma. The hemihypertrophy associated with hemihypertrichosis has been exceptionally reported and the cause of this association has not been identified to date. © 2010 Elsevier Masson SAS. Source

Kalfa N.,Montpellier University Hospital Center | Fukami M.,National Health Research Institute | Philibert P.,Montpellier University Hospital Center | Audran F.,Montpellier University Hospital Center | And 7 more authors.
PLoS ONE | Year: 2012

More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-like domain containing 1 (MAMLD1) gene, which was identified as critical for the development of male genitalia, may be implicated. The present study investigated whether MAMLD1 is implicated in cases of severe 46,XY DSD and whether routine sequencing of MAMLD1 should be performed in these patients. Seventy children with severe non-syndromic 46,XY DSD of unknown etiology were studied. One hundred and fifty healthy individuals were included as controls. Direct sequencing of the MAMLD1, AR, SRD5A2 and NR5A1 genes was performed. The transactivation function of the variant MAMLD1 proteins was quantified by the luciferase method. Two new mutations were identified: p.S143X (c.428C>A) in a patient with scrotal hypospadias with microphallus and p.P384L (c.1151C>T) in a patient with penile hypospadias with microphallus. The in vitro functional study confirmed no residual transactivating function of the p.S143X mutant and a significantly reduced transactivation function of the p.P384L protein (p = 0.0032). The p.P359S, p.N662S and p.H347Q variants are also reported with particularly high frequency of the p.359T- p.662G haplotype in the DSD patients. Severe undervirilization in XY newborns can reveal mutations of MAMLD1. MAMLD1 should be routinely sequenced in these patients with otherwise normal AR, SRD5A2 and NR5A1genes. © 2012. Source

Simon A.,Unite dEndocrinologie Pediatrique | Simon A.,University of Paris Descartes | Warszawski J.,French Institute of Health and Medical Research | Warszawski J.,University Paris - Sud | And 16 more authors.
JAMA - Journal of the American Medical Association | Year: 2011

Context: Lopinavir-ritonavir is a human immunodeficiency virus 1 (HIV-1) protease inhibitor boosted by ritonavir, a cytochrome p450 inhibitor. A warning about its tolerance in premature newborns was recently released, and transient elevation of 17-hydroxyprogesterone (17OHP) was noted in 2 newborns treated with lopinavir-ritonavir in France. Objective: To evaluate adrenal function in newborns postnatally treated with lopinavir-ritonavir. Design, Setting, and Participants: Retrospective cross-sectional analysis of the database from the national screening for congenital adrenal hyperplasia (CAH) and the French Perinatal Cohort. Comparison of HIV-1-uninfected newborns postnatally treated with lopinavir-ritonavir and controls treated with standard zidovudine. Main Outcome Measures: Plasma 17OHP and dehydroepiandrosterone-sulfate (DHEA-S) concentrations during the first week of treatment. Clinical and biological symptoms compatible with adrenal deficiency. Results: Of 50 HIV-1-uninfected newbornswhoreceived lopinavir-ritonavir at birth for a median of 30 days (interquartile range [IQR], 25-33), 7 (14%) had elevated 17OHP levels greater than 16.5 ng/mL for term infants (>23.1 ng/mL for preterm) on days 1 to 6 vs 0 of 108 controls having elevated levels. The median 17OHP concentration for 42 term newborns treated with lopinavir-ritonavir was 9.9 ng/mL (IQR, 3.9-14.1 ng/mL) vs 3.7 ng/mL (IQR, 2.6-5.3 ng/mL) for 93 term controls (P<.001). The difference observed in median 17OHP values between treated newborns and controls was higher in children also exposed in utero (11.5 ng/mL vs 3.7 ng/mL; P<.001) than not exposed in utero (6.9 ng/mL vs 3.3 ng/mL; P=.03). The median DHEA-S concentration among 18 term newborns treated with lopinavir-ritonavir was 9242 ng/mL (IQR, 1347-25 986 ng/mL) compared with 484 ng/mL (IQR, 218-1308 ng/mL) among 17 term controls (P<.001). The 17OHP and DHEA-Sconcentrations were positively correlated (r=0.53;P=.001). All term newborns treated with lopinavir-ritonavir were asymptomatic, although 3 premature newborns experienced life-threatening symptoms compatible with adrenal insufficiency, including hyponatremia and hyperkalemia with, in 1 case, cardiogenic shock. All symptoms resolved following completion of the lopinavir-ritonavir treatment. Conclusion: Among newborn children of HIV-1-infected mothers exposed in utero to lopinavir-ritonavir, postnatal treatment with a lopinavir-ritonavir-based regimen,compared with a zidovudine-based regimen, was associated with transient adrenal dysfunction. ©2011 American Medical Association. All rights reserved. Source

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