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Ten years after the consensus meeting on disorders of sex development (DSD), genital surgery continues to raise questions and criticisms concerning its indications, its technical aspects, timing and evaluation. This standpoint details each distinct situation and its possible management in 5 main groups of DSD patients with atypical genitalia: the 46,XX DSD group (congenital adrenal hyperplasia); the heterogeneous 46,XY DSD group (gonadal dysgenesis, disorders of steroidogenesis, target tissues impairments …); gonosomic mosaicisms (45,X/46,XY patients); ovo-testicular DSD; and "non-hormonal/non chromosomal" DSD. Questions are summarized for each DSD group with the support of literature and the feed-back of several world experts. Given the complexity and heterogeneity of presentation there is no consensus regarding the indications, the timing, the procedure nor the evaluation of outcome of DSD surgery. There are, however, some issues on which most experts would agree: 1) The need for identifying centres of expertise with a multidisciplinary approach; 2) A conservative management of the gonads in complete androgen insensitivity syndrome at least until puberty although some studies expressed concerns about the heightened tumour risk in this group; 3) To avoid vaginal dilatation in children after surgical reconstruction; 4) To keep asymptomatic mullerian remnants during childhood; 5) To remove confirmed streak gonads when Y material is present; 6) It is likely that 46,XY cloacal exstrophy, aphallia and severe micropenis would do best raised as male although this is based on limited outcome data. There is general acknowledgement among experts that timing, the choice of the individual and irreversibility of surgical procedures are sources of concerns. There is, however, little evidence provided regarding the impact of non-treated DSD during childhood for the individual development, the parents, society and the risk of stigmatization. The low level of evidence should lead to design collaborative prospective studies involving all parties and using consensual protocols of evaluation., (Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

We describe a newborn girl with multiple malformations associated with an interstitial deletion of chromosome 2q (q24q32). Clinical findings included growth retardation, microcephaly, facial malformations, common atrioventricular canal, digital anomalies of both hands and feet, and ovarian hypoplasia. Bilateral ocular anomalies included down-slanting palpebral fissures, blepharophimosis, microphthalmia, uveal coloboma, and corneal opacity. Chromosomal segment 2q31 may play a major role in the development of the eye and its adnexa.

Objective: To evaluate postnatal growth of extremely low birth weight infants (ELBW, <1,000 g) until 36 months of corrected age (CA), and to relate growth outcome to anthropometric parameters at birth, sex, fetal growth status (small or appropriate for gestational age--SGA/AGA), period of admission and major perinatal events., Study Design/method: Weight (Wt), height (Ht) and head circumference (HC) were assessed in 159 ELBW infants. Data were standardized with Z-scores following Usher and McLean and Sempe growth curves. Uni- and multivariate statistical analysis were performed., Results: The mean birth weight was 851.2+/-116.5 g. Z-scores decreased from birth to term, at a deeper rate for AGA than for SGA infants (p<0.005 for Ht, Wt, and HC). Between term and 36 months, growth was better in SGA compared with AGA infants (p=0.003 for Ht). Multivariate analysis showed that anthropometric parameters at birth were positive determinants for Wt, Ht and HC at term, and also for Wt and Ht at 36 months CA (Z-scores). Oxygen therapy after 36 weeks of post-conceptional age was a negative determinant influencing growth at 36 months CA (Z-scores)., Conclusions: Significant catch-up growth took place between birth and 36 months, which was greater for SGA than for AGA infants. Anthropometric parameters at birth and oxygen therapy at 36 weeks post-conceptional age are the main predictive factors for growth at 36 months CA., (Copyright (c) 2005 S. Karger AG, Basel.)

Unlabelled: The aim of this paper was to report the vital and neurological outcome of 249 preterm infants of less than 29 weeks born between 1990 and 1996, and included in a prospective study until two years of age., Results: The initial mortality rate was 19%. This was related to gestational age and severe transfontanellar ultrasonographically (TFU) detected abnormalities. The rate of follow-up at two years of age was 98%. Neurological sequelae amounted to 12.8%, including four cases of deafness. The possibility of survival without neurological sequelae increased from 52% at 24-25 weeks to 72% at 26-28 weeks of gestational age (p < 0.005). The presence of sequelae was significantly related to severe cranial ultrasonographically-detected abnormalities, to parental social level, and to early neonatal anemia. Normal TFU and/or isolated periventricular hyperechogenicity could not exclude the presence of neurological sequelae which, however, appeared to be less severe than at the onset., Conclusion: Gestational age, severe TFU abnormalities and neonatal anemia play a major role in the rate of mortality and in the neurological sequelae in preterm infants, and can influence the decisions concerning the treatment of this pediatric population.

Social violence is a kind of violence which is applied by one individual to another. It is a stake in the field of public health because of an increasing number of children with such behaviors. In addition to environmental factors, the occurrence of abnormal social behavior before 9 years of age seems to precede social violence for the subsequent 20 years of life. One must therefore identify an inadequate attitude towards the parents and/or the teachers, or a poor child's self-esteem and self-respect. These phenomena are based on parental authority, on the ethical development of the child, on his verbalization capacity, on his socialization and his affective development. It is therefore important to stimulate ethical capacities and feelings in the child not only to provide autonomy but also to allow reflexive distinction of language, behavior and judgment, which enable him to understand, consider and respect other individuals.

With improved results of liver transplantation, the number of candidates is increasing. However the scarcity of suitable grafts from cadaveric donors remains a limitation. In spite of the use of full size or reduced size grafts or partial grafts from split livers, some children still die while waiting for liver transplantation. We describe a successful orthotopic liver transplantation in a 10 months old female using the left lateral lobe (segments II and III) from her 27 years old father. The child suffered from biliary atresia, her condition was deteriorating with intractable ascites and increasing jaundice. The father asked us to give a part of his own liver to his daughter. The concept of this innovative therapy had already been submitted to a research-ethics consultation which gave us favorable conclusions. After careful donor evaluation, the left lateral lobe was harvested on July 22, 1992, including the left hepatic artery, left portal vein and left hepatic vein; hepatic artery for segment IV, which arose from the right structures, was preserved, The graft was immediately transplanted orthotopically after recipient total hepatectomy with inferior vena cava preservation. Cold ischemia time was 1 hour and 45 minutes, revascularization of the graft was homogeneous from the very beginning and its early function was excellent. Thirteen days after the operation, the donor was discharged in good condition. The child was reoperated at day 9 for a small biliary leak originating from the cut surface of the liver. After resolution of an episode of rejection and an intra-abdominal abscess, the child was discharged in good health with normal liver function 1 month post-transplant.(ABSTRACT TRUNCATED AT 250 WORDS)

This review examines the ethical problems of liver transplantation from living parental donors regarding the main ethical principles. It appears that this method of transplantation is a new possibility offered to patients that cannot be subtracted from the parents' choice without interfering with their liberty. Moreover, there is a social decisiveness to ensure the offering of this option which is limited by the conditions of realisation, timing and personal situations of the parents. The considerations of risks, benefits, advantages and prejudices between donor and recipient show a favourable balance for this type of transplantation provided that adequate medical indications are respected. However, the considerations of psychological cost and burden deserve special attention and are detailed in this paper especially regarding the motivations and the long-term effects on the donor. Futility and ethical generalisation examinations favour such a procedure. Moral justice will generally be respected. The consideration of autonomy required special attention owing to the situation pressure upon the donor's consent. Consent deserves adapted solicitation according to variable situations: whether the donor explicitly specifically wanted to donate part of his liver or only required information. Excessive solicitation of parents' participation to liver donation represents qualified "forced choice"; in some situations where the parents cannot effectively refuse their participation, paternalistic action is ethically acceptable. A general procedure is proposed to ensure the psychological, legal and ethical protection of the donor and recipient.

Liver and serum concentrations of vitamin K active compounds were measured in two groups of (deficient and normal) broilers after administration of phylloquinone 1 mg/kg. Assays were performed by HPLC after extraction and purification of these compounds. The only menaquinone found in the chicken was menaquinone-4. In the deficient group, the chickens exhibited hepatic concentrations of vitamin K1, vitamin K1 epoxide and menaquinone-4 markedly lower than those of the control group. After administration of phylloquinone, vitamin K and vitamin K epoxide levels fell sharply. There is no hepatic storage of vitamin K comparable to that of vitamin A. However, while menaquinone levels were found to be stable in the control group, they rose significantly in the deficient group after vitamin K injection. The question is: is there a transformation of vitamin K into menaquinone and/or is there a preferential utilization of one of the vitamin K active compounds?

The authors present their US findings in 24 patients with proved complicated midgut malrotation: volvulus in 18 and occlusive Ladd's bands in 6. All the 24 patients have had US examination prior to surgery. Contrast examinations were performed in only 9 patients, always after US and before surgery. The sonographic "whirlpool" pattern of the superior mesenteric vein and mesentery around the superior mesenteric artery was detected in 15 of the 18 patients with midgut volvulus, and was best seen using Doppler color. Embryological signification of midgut malrotation is discussed.

We studied the effects of prolonged pancuronium administration in 10 neonates under assisted ventilation for hyaline membrane disease. Pancuronium bromide was administered from the time of intubation with a load dose of 0.1 mg/kg followed by a continuous infusion of 0.03-0.07 mg/kg/h. Tolerance, especially cardiovascular, was excellent after 72 to 525 h of therapy (mean 173 h). Oxygen needs, incidence of mechanical complications and the general evolution of idiopathic respiratory distress were not significantly affected by muscle relaxation. The benefits of systematic pancuronium administration during respiratory intensive care in neonates with hyaline membrane disease appear to be of little value when considering the necessary constraints (corneal, cutaneous, vesical and tracheal supervision).

The seromucoid concentration was estimated in 131 newborn infants who were divided into four groups (controls, dysmature-postmature, infected, miscellaneous). Elevation of seromucoids suggested neonatal bacterial infection. The non-specific nature of the elevation is compensated for by the ease and the speed of obtaining a result.

The evolution of plasma glucose concentration was investigated in 8 dysmature and 5 appropriate-for-gestational-age (AGA) preterm infants. Mean (+/- 1 SD) plasma glucose decreased from 3,3 +/- 0,8 to 2,3 +/- 1,2 mmol/l in 30 minutes (p less than 0,01) with two values below 1,8 mmol/l. It then increased to 2,7 +/- 0,7 mmol/l at 60 minutes with no values below 1,8 mmol. In 4 (AGA) preterm infants plasma glucose decreased from 2,73 +/- 0,76 to 2,04 +/- 1,6 mmol/l at 60 minutes. One preterm infant treated with theophylline showed an increase from 4,91 to 6,05 mmol/l at 60 minutes. A negative correlation was observed only in dysmature infants between the rate of glucose infusion and the maxima drop of plasma glucose (r = 0,77 ; p less than 0,01). In dysmature infants, a drop in plasma glucose appears in correlation to the previous infusion rate of glucose. However a counterregulation appears in all dysmature infants.

Gamma-Carboxyglutamic acid (GLA) was measured in the urines obtained from 11 full-term infants, 48 pre-term infants appropriate for gestational age (AGA), and 25 small-for-gestational age (SGA) infants. Separation was performed by high resolution anion exchange chromatography. The results were similar in both AGA and SGA infants. During the first 3 days of life, urinary GLA mean (and range) was 1.66 (0.34-4.60) in the low birth weight infants versus 0.88 (0.26-1.38) in the full-term infants and 0.76 (0.62-1.15) mumol . kg-1 X 24 h-1 in the control adults. In the low birth weight infants, urinary GLA fell from 2.79 (0.61-5.75) at age 1-3 days, to 1.55 (0.26-4.04) mumol/24 h at day 8 (p less than 0.01); it then rose again slowly to 2.12 (0.65-3.93) mumol/24 h at day 45. In these infants there was no correlation between urinary GLA excretion and birth weight or gestational age, or urinary hydroxyproline or serum alkaline phosphatase. Despite the well-known reduced blood levels of vitamin K dependent coagulation factors in neonates, these results show that urinary GLA excretion is at least similar to the excretion in adults. These data suggest that these neonates can carboxylate glutamic acid and that the newborn infant has a high bone turnover.

Eight proteins (Immunoglobulin A, G, M, C3 and C4 fractions of complement, alpha 1-glycoprotein, lactoferrin and alpha 1- antitrypsin) were measured by immuno-diffusion or laser nephelometry in 50 milk samples. Thirty nine were heated thrice at 62 degrees C for 20 minutes. Twenty six came from mothers who delivered prematurely (less than 37 weeks) and 13 from mothers who delivered at term. Eleven samples were, used to determine the effect of the heating process. There was no significative difference of the concentrations of the eight proteins between the breast milk obtained at term or prematurely, even when the comparisons were made between colostral milks or transitional milks. The heating process reduced the concentration by 47 % for IgA, more than 88 % for IgG and IgM, 41 to 74 % for the other proteins; only orosomucoid seemed little affected (-16 %). These data suggest that the heating process impairs the immunologic effect of breast milk. This effect must be particularly considered in regard to the absence of any significant difference between the milks obtained at term or prematurely.

A study of 214 neonates (with 87 premature infants) reveals that C-reactive protein (CRP), orosomucoid and prealbumin are the most interesting proteins for the diagnosis of neonatal sepsis and for studying its follow-up. Orosomucoid is high in 85% of bacterial infections and CRP in 75%. Early type strep B infections give often false negative results. The evolution of CRP and of prealbumin corresponds to the effects of treatment and the evolution of orosomucoid is parallel to the healing of the patients. The ratio orosomucoid/prealbumin allows an earlier appreciation of the healing.

The aim of the present study was to measure the plasma concentrations of amino acids under different diets in preterm neonates whose birthweights were less than 1,350 g and gestational ages less than 34 weeks, and to compare these results with the plasma concentrations of amino acids in full term infants who were exclusively breast fed. At the end of the second month, these concentrations in preterm breast fed infants were similar to those in full term infants except for significantly lower levels of lysine. The addition of 46% humanized formula to breast milk did not change the concentrations of amino acids. The blood levels of urea nitrogen and ammonia were not different in preterm and full term infants; they were not altered by the addition of the formula.

Over a 3 years and an half period, 40 cases of necrotizing enterocolitis (NEC) are diagnosed in a neonate unit. This represents, 1,22% of total admissions. A new notion is found out: the âge at the onset of NEC is viewed as the post-conceptional age (post-natal age added to gestational age). The cut-off period takes place at 34-36 weeks of post-conceptional age. The low birth weight newborn infants (less than 1 500 g) are significantly more concerned than the others, respectively 5,8% (13/222) and 0,8% (27/3 056). However, the inverse and significant correlation between the delay of onset of NEC and the birth weight is weak. The additional impact of feeding and blood transfusions on the role played by maturation is examined.

The effect of the treatment was controlled by measurements of plasma renin activity and aldosterone concentration. These observations concern maternal toxemia treated by diuretic and dietary sodium restriction two weeks before delivery. In two cases, labor was augmented with oxytocin infusion. These cases illustrate the respective role of sodium depletion and hemodilution in the occurrence of maternal and neonatal hyponatremia. They emphasize the amount of sodium supplementation in these newborn infants.

The hemorrhagic disease of the newborn can be prevented by administration of vitamin K1. The modes of utilization of the vitamin need to be studied in the mother and child. An experimental pharmacokinetic study was conducted, using the gravid female rat. Results showed rapid intestinal absorption of phylloquinone. The fetus plasma concentration rose from 8.6 micrograms/l at time 0 to 0 to 44.3 micrograms/l at 8 h. Such an increase is an evidence of phylloquinone diffusion across the placenta. The phenomenon requires a high gradient. On the other hand, maximum plasma concentrations are not reached until the 8th hour.

In an 18-year-old boy with Bartter's syndrome, hypophosphatemia was discovered (2.4 mg/100 ml) with normal serum calcium concentration (9.7 mg/100 ml) and elevated alkaline phosphatase level: 528 mU/ml (normal less than or equal to 150). Skeleton X-rays showed osteomalacia on the pelvic bones and metaphyseal rickets on the wrists. Plasma 25-hydroxycholecalciferol (25-OHCC) concentration was 7.2 ng/ml (normal = 13 +/- 4.4), and serum immunoreactive parathyroid hormone (iPTH) concentration 160 micron1Eq/ml (normal less than or equal to 150). Ca infusion (1500 mg/m2/12 h) induced an increase in serum P level to 3.2 mg/100 ml, in tubular phosphate reabsorption from 72 to 90%, while serum iPTH decreased to 33 micron1Eq/ml. Vitamin D2 administration (45 mg) resulted in increased 25-OHCC concentration to 28 ng/ml and in healing of pelvic osteomalacia. However, there was little change of the radiological aspect of the wrist and of serum phosphorus and iPTH concentrations. In a control 6-year-old hypokalemic girl, administration of parathyroid hormone (8 USP/kg) produced a marked phosphaturic response and an increase in urinary cyclic AMP excretion. These data suggest that hypophosphatemia can be attributed to secondary hyperparathyroidism in the patient with Bartter's syndrome. Hypokalemia does not impair the renal activity of parathyroid hormone.

This effect was studied in 23 preterm neonates at the age of 2--8 hours. Betamethasone was administered at a dose of 12 mg intramuscular once or several times before delivery. This glycemia was compared with the glycemia of 52 control preterm infants studied at the same period. In the control preterm neonates, the mean (+/- 1 S.D.) blood glucose level was 0.51 +/- 0.26 g/l versus 0.53 +/- 0.24 g/l in the preterm infants pretreated with betamethasone. The incidence of glycemia less than 0.30 or 0.20 g/l was not significantly different in the two groups. These data show that prenatal betamethasone therapy has no harmful or diserable effect on the neonatal glycemia of preterm infants.

The study of the effect of triamterene on the movements of sodium and potassium shows: the absence of influence of triamterene on sodium movements, and the decrease of the entry of potassium in red blood cells when the solution contains triamterene. This effect of triamterene might be one of those explaining the potassium-sparing effect of this product.

A new case of Bartter's syndrome is described. There is a context of other cases of familial renal tubular disease with a sex-linked heredity. In this case, the Bartter's syndrome is associated with magnesium deficiency and hypomagnesemia, with a ricket and severe phosphate deficiency, and finally with an hypercorticism. The basal secretion rate of cortisol agree with a Cushing's syndrome. This hypercorticism is corrected by aminogluthetimide. The influence of the hyperreninism on the hypercorticism is discussed.

During an 18-month period, 11 cases of necrotizing enterocolitis (NEC) were diagnosed in infants treated in Neonate Department. This represents 1% of total admissions. Six cases occurred during hospitalization. Clinically, the disease took three different forms: surgical form, medical form responding well to exclusive parenteral feeding and isolated haemorrhagic form, which deserves discussion. Seven of these infants had cytomegalovirus (CMV) infection. NEC accounted for 22% of clinical symptoms in CMV infection. These data suggest that the cytomegalovirus may act as aggravating factor in NEC.

A quantitative study of the fecal flora was carried out in 21 neonates with necrotizing enterocolitis (NEC), (4 infants being born at term) and 57 control infants (30 born at term and 27 born before term). In the population as a whole Klebsiella was detected more frequently in NEC than in the controls. This was especially true in premature infants where Klebsiella was found in 65% of the affected infants versus 33% of the controls (p less than 0,05), while no Klebsiella was detected in the 4 term infants with NEC and in 87% of the term controls. These data suggest that Klebsiella could play a role in the pathogenesis of NEC, especially in the premature infant. Therefore, it seems required to avoid the artificial selection of Klebsiella in the neonate.

The serum concentration of phylloquinone (vitamin K1) was measured in 34 healthy mothers and in the arterial cord blood of their newborn infants. In addition, the activities of factor II and of factors VII plus X were determined simultaneously in 16 paired maternal and fetal bloods. The serum vitamin K1 concentration was similar to that of control subjects in 27 mothers: 9.03 +/- 4.9 micrograms/L (mean and SD), with a simultaneous concentration of 10.4 +/- 5.3 micrograms/L in cord blood. Six mothers exhibited high serum vitamin K1 concentrations from 40 to 240 micrograms/L (median, 82) and the concentration in cord blood ranged from 25 to 115 micrograms/L (median, 71). One mother had a normal concentration of vitamin K1: 9 micrograms/L while no vitamin K1 was detectable in the serum of her infant. The activity of factor II and factors VII plus X was 7% and 7%, respectively, in this infant and 100% in the mother. All other mothers showed normal factor II and factors VII plus X activity, while the median activity was 47% (28%-56%) for factor II and 65% (35%-100%) for factors VII plus X in cord blood. These data suggest that vitamin K1 can cross the placental barrier but not in every case. Therefore the systematic administration of vitamin K1 to the newborn infant seems to be required to prevent the occurrence of the hemorrhagic disease.

The aim of this study was to evaluate the influence of an hyperosmolar solution of theophylline and of blood transfusion in the occurrence of necrotizing enterocolitis (NEC). By the end of 1982, theophylline previously given in alcoholic solution (osmolality greater than 4000 mosm/kg) was given in a preparation of sodium benzoate isoosmotic to the plasma; in addition, blood was irradiated for 20 minutes by X-Rays (5000 rads) before every transfusion. In the same unit of premature infants, the incidence of NEC was 6.7% in 1981-82; it decreased to 2.7% in 1983-84 (p less than 0.02). In the same periods of time, the incidence of NEC in very low birth weight infants (less than 1500 g) decreased from 18% to 4.7% (p less than 0.001) while the number of these very low birth weight infants had increased significantly. The incidence of blood transfusion prior to NEC was found in 67% of the patients. These data suggest a beneficial role of reducing the osmolality of theophylline and of X-Rays irradiation of blood before transfusion as a prophylaxis of NEC in premature infants.

74 appropriate-for-gestational age (AGA) and 22 small-for-gestational age (SGA) caucasian infants were studied for anthropometric parameters: mid arm circumference (MAC), triceps and subscapular skinfold thickness (TSKF and SSKF) recorded at 15 and 60 s, chest circumference (cc), head circumference, birth weight and length. MAC is highly correlated with birth weight either in AGA (r = 0.936; P less than 0.001) or in SGA infants (r = 0.860; P less than 0.001). MAC is also correlated with gestational age in AGA (r = 0.850; P less than 0.001) and SGA infants (r = 0.76; P less than 0.001). Similar correlations were found between TSKF, SSKF and birth weight or gestational age. Arm muscle and fat areas are also positively correlated with birth weight and gestational age, in AGA and SGA infants. A multiple regression analysis of our data allowed a classification of the best discriminant anthropometric parameters between AGA and SGA infants. MAC, SSKF15, SSKF60 and chest circumference were selected. An equation was established in AGA infants with these four parameters giving a predictive gestational age: gestational age (weeks) = 1.216 MAC (cm)-3.588 SSKF15 (mm) + 0.263 CC (cm) + 17.9. The ratio of predicted gestational age to the real gestational age was 1.0 +/- 0.044 in AGA versus 0.896 +/- 0.034 in SGA infants. Our data suggest that MAC and SSKF provide a simple measure of body composition of neonates and a useful tool for determining the degree of maturity of a newborn independent of birth weight.