WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the biosynthesis of gonadal androgen in female mammals. An 18-year-old woman presented with primary amenorrhea and an absence of müllerian-derived structures, unilateral renal agenesis, and clinical signs of androgen excess--a phenotype resembling the Mayer-Rokitansky-Küster-Hauser syndrome and remarkably similar to that of female Wnt4-knockout mice. A genetic evaluation revealed a loss-of-function mutation in the WNT4 gene. WNT4 appears to be important in the development and maintenance of the female phenotype in women, by means of the regulation of müllerian-duct formation and control of ovarian steroidogenesis.

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In the majority of patients a carefully obtained history and physical examination suggest the diagnosis of a vaginal foreign object. The leading symptoms are vaginal bleeding and blood-stained or foul smelling vaginal discharge. Removal of the foreign object followed by a single irrigation with Providon-Iod is the definitive treatment and does not require additional measures.

Aim: To evaluate the clinical features and microbiological findings in young infants with mastitis. Methods: Retrospective review of medical records of 18 infants with breast inflammation during the first 3 mo of life seen in the paediatric emergency department between 1992 and 2002. Results: All were full‐term infants with female–male ratio of 3.5∶1. The age ranged from 12 to 45 d, with a peak in the 4th and 5th weeks of life. Only five patients had systemic manifestations, and five were pretreated with oral antibiotics (amoxicillin‐clavulanic acid). The latter as well as seven additional cases required incision and drainage due to abscess formation. Bacterial cultures grew Staphylococcus aureus in 10 cases including all pretreated infants. In four of these cases, Gram stain showed the pathogen. After antimicrobial treatment, no recurrence was observed in any of the patients. Conclusions: These findings suggest that mastitis in early infancy should be treated with parenteral antibiotics guided by Gram stain when available and informative. Otherwise, β‐lactamase‐resistant antibiotics are a reasonable empirical initial treatment pending culture results. Optimizing the management of infants with mastitis is important especially since abscess formation requiring incision may be detrimental for later breast development.