Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

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.

Ocular anomalies associated with interstitial deletion of chromosome 2q31: case report and review.

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.

Growth in extremely low birth weight infants up to three years.

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.