PICTURE OF THE MONTH Lack of Thelarche as the Presenting Feature of Bilateral Congenital Amastia Deep Dutta & Satinath Mukhopadhyay & Subhankar Chowdhury Received: 16 August 2013 /Accepted: 11 September 2013 # Dr. K C Chaudhuri Foundation 2013 In a 9-y-old girl with an uneventful antenatal history and childhood was brought by her parents with concerns of lack of breast development and short stature (Fig. 1). She was diagnosed with congenital bilateral amastia. Examination re- vealed height 114 cm (<3rd percentile; standard deviation score: -2.41), delayed teeth eruption with high arched palate (Fig. 2). Ultrasonography confirmed absence of breast tissue with normal pectoralis major, pectoralis minor, normal bilat- eral subclavian artery Doppler and echocardiography. Her karyotype was 46XX. Ultrasonography abdomen and pelvis were normal. Biochemical evaluation revealed normal thyroid function, IGF-1 level, clonidine stimulated GH and calcium metabolism (calcium, phosphate, 25-hydroxyvitamin-D and parathormone). MRI pituitary was normal. Congenital amastia (male: female = 1:5), is characterized by absence of breast tissue, nipples and areola, is a result of com- plete failure of development of mammary line at about 6 wk in-utero [1]. Congenital amastia is very rare, and can be isolated in an otherwise normal individual or may be associated with absence or hypoplasia of pectoralis major, rib abnormali- ties, brachydactaly or syndactaly (Poland syndrome) [1]. Amastia may be associated with acral-renal ectodermal dysplasia and lipoatrophic diabetes (AREDYLD syndrome) and ulnar-mammary syndrome [2]. Exposure to carbimazole and dehydroepiandrosterone during first trimester of pregnancy has been reported to cause amastia [3]. Bilateral amastia is even more rare, of poorly understood etiology with both autosomal dominant and recessive inheritance [4]. Intra- Fig. 1 Profile of patient showing bilateral amastia. There is total absence of development of breast tissue along with nipple areola complex. Bilat- eral pectoralis major is seen normal Electronic supplementary material The online version of this article (doi:10.1007/s12098-013-1248-8) contains supplementary material, which is available to authorized users. D. Dutta (*) Department of Endocrinology & Metabolism, IPGMER & SSKM Hospital, Room-9A, 4th floor, Ronald Ross Building, 244 AJC Bose Road, Calcutta 700020, India e-mail: deepdutta2000@yahoo.com S. Mukhopadhyay : S. Chowdhury Department of Endocrinology & Metabolism, IPGMER & SSKM Hospital, Calcutta, India Indian J Pediatr DOI 10.1007/s12098-013-1248-8