Lack of Thelarche as the Presenting Feature of Bilateral Congenital Amastia

Abstract

In a 9-y-old girl with an uneventful antenatal history andchildhood was brought by her parents with concerns of lackof breast development and short stature (Fig. 1). She wasdiagnosed with congenital bilateral amastia. Examination re-vealed height 114 cm (<3rd percentile; standard deviationscore: −2.41), delayed teeth eruption with high arched palate(Fig. 2). Ultrasonography confirmed absence of breast tissuewith normal pectoralis major, pectoralis minor, normal bilat-eral subclavian artery Doppler and echocardiography. Herkaryotype was 46XX. Ultrasonography abdomen and pelviswerenormal.Biochemicalevaluationrevealednormalthyroidfunction, IGF-1 level, clonidine stimulated GH and calciummetabolism (calcium, phosphate, 25-hydroxyvitamin-D andparathormone). MRI pituitary was normal.Congenital amastia (male: fema le = 1:5), is characterized byabsence of breast tissue, nipples and areola, is a result of com-plete failure of development of mammary line at about 6 wkin-utero [1]. Congenital amastia is very rare, and can beisolated in an otherwise normal i ndividual or may be associatedwith absence or hypoplasia of pectoralis major, rib abnormali-ties, brachydactaly or syndactaly (Poland syndrome)[1]. Amastia may be associated with acral-renal ectodermaldysplasia and lipoatrophic diabetes (AREDYLD syndrome)and ulnar-mammary syndrome [2]. Exposure to carbimazoleand dehydroepiandrosterone during first trimester of pregnancyhas been reported to cause amastia [3]. Bilateral amastia iseven more rare, of poorly understood etiology with bothautosomal dominant and recessive inheritance [4]. Intra-