Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.

Steroidogenic factor 1 (encoded by the NR5A1 gene) is a critical regulator of reproduction, controlling transcription of key genes involved in sexual dimorphism. To date, NR5A1 variants have been found in individuals with a 46,XY karyotype and gonadal dysgenesis, as well as with a wide spectrum of genital anomalies and, in some patients, with adrenal insufficiency. We describe evolution of gonadal function, from the neonatal period to puberty, in a patient with a 46,XY karyotype, a disorder of sexual development, and a mutation (c.

Vaginoplasty for disorders of sex development.

One of the most common problem found in patients with Disorders of Sexual Developments is the absence or extreme hypoplasia of the vagina. The type of patients presenting this anomaly may belong to completely different groups: (1) Patients with a urogenital sinus with urethra and vagina fusing together to form a common channel. (2) Patients with absent Müllerian structures and different degrees of external virilization.

A new suture material for hypospadias surgery: a comparative study.

Purpose: We compared the results of hypospadias repair using polyglytone versus polydioxanone to evaluate the potential benefit of using a suture with a rapid absorption time.

Materials And Methods: A total of 100 patients 8 to 24 months old affected by distal isolated penile hypospadias were considered for this study. Patients were randomized and assigned to 2 different groups according to the suture material used during the surgical procedure (tubularized incised plate repair with or without preputial reconstruction).

Retroperitoneoscopic renal surgery in children: our experience.

Background: Laparoscopic renal surgery has become an accepted approach for benign disease in adult and pediatric urology. We present our experience in renal laparoscopy in infants during the past 5 years and evaluate our series to establish the safety and efficacy of such procedures in children.

Materials And Methods: From August 1999 to December 2004, we performed 32 renal laparoscopic procedures on 31 children aged 12 months to 16 years (mean, 42 months).

Natural history of vesicoureteral reflux associated with kidney anomalies.

Objectives: To evaluate the cystographic follow-up of patients with multicystic dysplastic kidney (MCDK), renal agenesis, and renal ectopia with associated primary vesicoureteral reflux (VUR).

Methods: Patients with primary associated VUR (grade 2 or more) and with a minimal follow-up of 24 months were included in this study.

Results: Of the children with renal agenesis, 24% had VUR.

The incidence of associated urological abnormalities in children with renal ectopia.

Purpose: We evaluate the incidence of associated urological abnormalities in children with renal ectopia (RE).

Materials And Methods: We retrospectively reviewed database records of 99 consecutive pediatric cases of RE diagnosed at our hospital between 1988 and 2001.

Results: Mean patient age at diagnosis was 13 months (range 0 to 9 years, SD 2.

Upregulated expression of EGF and TGF-alpha in the proximal respiratory epithelium in the human hypoplastic lung in congenital diaphragmatic hernia.

Newborn infants with congenital diaphragmatic hernia (CDH) still have a high mortality rate. Epidermal growth factor (EGF) and transforming growth factor-alpha (TGF-alpha) are peptide growth factors involved in the fetal lung growth and development. The EGF and TGF-alpha have been reported to promote pulmonary branching activity and alveolar type-II pneumocyte proliferation.

Increased expression of ICAM-1 and VCAM-1 in the lung of nitrofen-induced congenital diaphragmatic hernia in rats.

Recently, increased expression of inflammatory cytokine, tumor necrosis factor (TNF)-alpha, has been reported in both humans and animal models with CDH and the decreased TNF-alpha expression in CDH lung after antenatal dexamethasone (Dex) treatment. Intercellular adhesion molecule (ICAM)-1 and vascular cell adhesion molecule (VCAM)-1 are induced by several inflammatory cytokines such as TNF-alpha. The aim of this study was to investigate pulmonary ICAM-1 and VCAM-1 expression in CDH lung in rats and to determine the effect of antenatal glucocorticoid.

The adolescent varicocele: the crucial role of hormonal tests in selecting patients with testicular dysfunction.

Background/purpose: Early identification and treatment of varicocele during adolescence may reduce the risk of infertility. Prophylactic surgery on all adolescents with varicocele would be unnecessary surgery on a high percentage of them. Suggested guidelines for early intervention have included testicular volume loss and abnormality in the hormonal integrity of the hypothalamic-pituitary-testicular axes.

Antenatal dexamethasone enhances endothelin-1 synthesis and gene expression in the heart in congenital diaphragmatic hernia in rats.

Background/purpose: Although high levels of endothelin-1 (ET-1) in plasma may be relevant in certain pathophysiologic states, such as pulmonary hypertension accompanying congenital diaphragmatic hernia (CDH), experimental evidence favors a local, paracrine, or autocrine role for ET-1 in most tissues. Evidence of ET-1 production has been documented in fetal heart tissue where it exerts growth-enhancing and mitogenic effects. ET-1 also has a potent positive inotrope action on cardiac muscle.

Effect of mechanical ventilation on the pulmonary expression and production of elastin in nitrofen-induced diaphragmatic hernia in rats.

Background/purpose: Hypolastic lung in congenital diaphragmatic hernia (CDH) shows markedly thickened alveolar walls, increased interstitial tissue, and markedly diminished alveolar air space, showing morphologic immaturity. Decrease in lung compliance and distensibility often is seen in human CDH as well as experimentally produced CDH. Collagen and elastin, critical components of the lung connective tissue, have been suggested to have important influence on lung compliance and maximal expansion.

Is endoscopic follow-up needed in pediatric patients who undergo surgery for GERD?

Background: This study evaluated the role of endoscopy in the postoperative management of pediatric patients who undergo fundoplication for GERD.

Methods: Medical records of 109 otherwise healthy children who underwent operation for GERD from 1979 to 1996 were reviewed. Patients with respiratory symptoms or esophageal stenosis were excluded.