Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.

Introduction: X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in the gene. The main phenotypes observed in men with X-ALD are primary adrenal insufficiency, adrenomyeloneuropathy, and cerebral ALD (cALD). Cerebral ALD consists of a demyelinating progressive cerebral white matter (WM) disease associated with rapid clinical decline and is fatal if left untreated.

Validation of an Accurate and Noninvasive Tool to Exclude Female Precocious Puberty: Pelvic Ultrasound With Uterine Artery Pulsatility Index.

The purpose of this study is to validate the accuracy of pelvic ultrasound (US) with the evaluation of uterine artery pulsatility index (PI) to exclude female precocious puberty. Tanner breast development score, luteinizing hormone (LH) peak after gonadotropin-releasing hormone (GnRH) stimulation, and uterine and ovarian volumes and diameters were assessed with pelvic US in 495 girls at a single institution. The study population was divided as follows: prepubertal ( = 207), pubertal with physiologic activation of the hypothalamic-pituitary-ovarian axis ( = 176), and central precocious puberty (CPP; = 112).

Leydig cell tumor of the spermatic cord in an adolescent affected by congenital adrenal hyperplasia.

We report the first case of a patient with extratesticular Leydig cell tumor associated with congenital adrenal hyperplasia. An 18-year-old congenital adrenal hyperplasia patient presented with a palpable and asymptomatic right extratesticular mass. Color Doppler sonography confirmed the presence of a capsulated and vascularised lesion.

46,XY karyotype in a female phenotype fetus: a challenging diagnosis.

Background: The growing use of prenatal investigations allows an early detection of several inborn disorders, including disorders of sexual development. The management of these conditions is an arising problem.

Case: 46,XY karyotype and female phenotype were detected in a fetus; 5α-reductase and androgen receptor gene analysis on chorionic villi revealed no relevant mutation.