Sotos Syndrome and Nephrocalcinosis, a Rare But Possible Association due to Impact on Contiguous Genes.

One-month old breastfeeding infant, full-term birth, with normal anthropometric measurements at birth is referred to Pediatric Nephrology due to a nephrocalcinosis. The patient presents dysmorphic features and heart disease. A metabolic study is conducted on blood and urine yielding results within normal parameters, except for renal concentration test and acidification test. At 6 months of age, patient presents overgrowth, which along with other clinical signs arouse suspicion of Sotos Syndrome. Molecular genetic testing detects heterozygous deletion in 5q35 between bands q35.2 and q35.3, affecting genes NSD1, SLC34A1 and FGFR4, which is compatible with this syndrome and with nephrocalcinosis as a rare association.

Stretched penile length at birth: a systematic review.

BACKGROUND: Micropenis is an endocrinological condition that is habitually observed at birth. Diagnosis is made by measuring the stretched penile length, a method established 80 years ago. Discrepancies in the normative data from recent studies raise the need for a current revision of the methodology. OBJECTIVES: The aims of this systematic review were to compare the different normative data of SPL at birth, to examine the methodological aspects of the technique and to evaluate the independent variables that may be involved. METHODS: Searches were performed using MEDLINE, EMBASE, Scielo, the Cochrane Library and Web of Science. A combination of the relevant medical terms, keywords and word variants for "stretched penile length", "penile length", "penile size", "newborn" and "birth" were used. Eligibility criteria included normative studies that used the stretched penile length (SPL) measurement on a population of healthy, full-term newborns during the first month of life. The outcomes studied included characteristics of the studies, methodological aspects and independent variables. RESULTS: We identified 49 studies comprising 21,399 children. Significant discrepancies are observed between the different studies. Methodological aspects seem to be consistent and similar. The main independent variables appear to be ethnic group and gestational age. Main limitations were the absence of studies of entire world regions such as Europe or South America, and the heterogeneity of the ethnic background that complicates the analysis. CONCLUSIONS: It seems advisable to suggest the creation of customized reference charts for each specific population instead of resorting to the classic cut-off points.

Síndrome de insensibilidad parcial a andrógenos con restos müllerianos. Descripción de un caso / Partial androgen insensitivity syndrome with persistent müllerian remnants. A case report

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