Should CAH in Females Be Classified as DSD?

Great controversies and misunderstandings have developed around the relatively recently coined term disorders of sex development or DSD. In this article we question the wisdom of including XX individuals with congenital adrenal hyperplasia (CAH) in the DSD category and develop arguments against it based on the published literature on the subject. It is clear that females with CAH assigned the female gender before 24 months of age and properly managed retain the female gender identity regardless of the Prader grade. Females with CAH and low Prader grades have the potential for a normal sexual and reproductive life. Those with greater degrees of prenatal androgen exposure (Prader grades IV and V) raised as females also identify themselves as females but experience more male like behavior in childhood, have a greater rate of homosexuality and have greater difficulty with vaginal penetration and maintaining pregnancies. Improvement in surgical techniques, better endocrinological, psychological and surgical follow up may lessen these problems in the future. Given the fact that the term DSD includes many conditions with problematic gender identity and conflicts with the gender assigned at birth, it may be appropriate exclude females with CAH from the DSD classification

Surgical Management of Neurogenic Sphincter Incompetence in Children

We report on the results of a literature review regarding the indications and results of operations to increase bladder outlet resistance to achieve dryness in children with neurogenic sphincter incompetence (NSBD). The relative advantages and disadvantages of injection of bulking agents, periurethral slings, bladder neck reconfiguration, artificial sphincters, and bladder neck closure based on a literature review and our combined clinical experience are discussed. Based on this review and our experience, we propose that periurethral injection of bulking agents is not justified as a primary treatment. Likewise, operations that reconfigure the bladder neck are not very useful since most patients also require bladder augmentation and an abdominal catheterizable channel. Bladder neck slings with autologous tissues are effective, mostly in females bur in the majority of patients a bladder augmentation is necessary. There is a role also for implantation of artificial urinary sphincters but when done as an isolated procedure, close monitoring to detect possible detrusor changes is needed. Bladder neck closure is an effective measure when other methods have failed

Effectiveness of Prenatal Intervention on the Outcome of Diseases That Have a Postnatal Urological Impact

We reviewed the literature addressing outcomes of fetal intervention of conditions that require post-natal urological management including lower urinary tract obstruction, hydrometrocolpos, congenital adrenal hyperplasia, and myelomeningocele. Despite several decades of fetal intervention for these conditions, benefits remain elusive in part because of the enormous difficulty of conducting prospective randomized studies. In this review, we reached the following conclusions: Prenatal intervention in lower urinary tract obstruction (LUTO) improves survival in the worst cases by improving pulmonary function and it may be advantageous for renal function, particularly in patients with adverse urine parameters.Prenatal treatment of female fetuses at risk of having congenital adrenal hyperplasia (CAH) reduces virilization. Non-invasive fetal DNA analysis allows earlier diagnosis, reducing the risk of treating with dexamethasone males and non-affected fetuses.Fetal treatment of myelomeningocele (MMC) is gaining momentum. Prospective studies including standardized urologic evaluation will determine if the encouraging results reported by some hold on the long term follow-up

Prenatal diagnosis of Smith-Lemli-Opitz syndrome – case report

Abstract Smith-Lemli-Opitz syndrome (SLOS) is a hereditary, autosomal recessive abnormality of cholesterol metabolism, leading to malformations of multiple organs. It is probably one of the most frequent metabolic disorders but variable clinical presentation makes the diagnosis of the syndrome difficult. The authors of the following work present a case report of prenatal diagnosis of SLOS in fetus with malformations of multiple organs and negative family history

Holoprosencephaly – a case report

Abstract Holoprosencephaly is a brain malformation caused by abnormal division of the forebrain into two separate hemispheres. Abnormal structures of the central nervous system often occur with other midline forebrain and face failures. In this report we present a case of a prenatal diagnosis of holoprosencephaly

Total Preputial Flap: A Reliable and Versatile Technique for Urethral and Penile Reconstruction

Abstract. We revisit the technique of total preputial flap (TPF) and its application for urethroplasty, penile skin coverage of both and present our results in 43 patients. (41 hypospadias, 2 epispadias). There were no instances of flap necrosis. In patients without prior attempts at reconstruction (n=36) we observed 4 urethro-cutaneous fistulas. TPF allowed the repair of cases of proximal hypospadias in one stage with an acceptable complication rate

The surgical correction of urogenital sinus in patients with DSD: 15 years after description of total urogenital mobilization (TUM) in children

Total urogenital sinus mobilization has been applied to the surgical correction o virilized females and has mostly replaced older techniques. Concerns have been raised about the effect of this operation on urinary continence. Here we review the literature on this topic since the description of the technique 15 years ago. Technical aspects and correct nomenclature are discussed. We emphasize that the term total refers to an en-bloc dissection and not to the extent of the proximal dissection. No cases of urinary incontinence have been reported following this operation. It is yet too early to evaluate results regarding sexual function but it is likely that the use of a posterior skin flap to augment the introitus will minimize the development of introital stenosis