Lack of Thelarche as the Presenting Feature of Bilateral Congenital Amastia

Excerpt

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 revealed 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 bilateral 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.

…