Vol. 12 No. 1 (2020): Archives of Public Health
Case Report

Two cases of non-syndromic congenital unilateral breast hypoplasia in one family

Marina Krstevska-Konstantinova
University Children's Hospital Skopje, North Macedonia
Konstandina Kuzevska-Maneva
University Children's Hospital, Skopje, North Macedonia
Elena Sukarova-Angelovska
University Children's Hospital, Skopje, North Macedonia
Ana Stamatova
University Children's Hospital, Skopje, North Macedonia
Velibor Tasic
University Children's Hospital, Skopje, North Macedonia
Zoran Gucev
University Children's Hospital, Skopje, Republic of North Macedonia
Julia Hаefele
Institute for Human Genetics, Technical University of Munich, Germany

Published 2020-02-20


  • breast hypoplasia,
  • pubertal abnormalities,
  • micromastia

How to Cite

Krstevska-Konstantinova M, Kuzevska-Maneva K, Sukarova-Angelovska E, Stamatova A, Tasic V, Gucev Z, Hаefele J. Two cases of non-syndromic congenital unilateral breast hypoplasia in one family. Arch Pub Health [Internet]. 2020 Feb. 20 [cited 2024 Jul. 25];12(1):58-61. Available from: https://www.id-press.eu/aph/article/view/4476


Micromastia or breast hypoplasia is described as underdevelopment of a woman's mammary tissue. We present the case of a 15-year-old girl with unilateral micromastia, with familial predisposition. Ultrasound, hormonal, dysmorphic, cardiologic, genetic examinations and testing were performed. No mutation in the whole- exome sequencing was found, nor novel mutation. Some of these cases have been reported to be related to breаst cancer so further follow-up is mandatory. Therapy consists of surgical reconstruction of the affected breast. This is a rare condition and it requires a multidisciplinary approach.


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  1. Rosen P. Abnormalities of mammary growth and development. Philadelphia, PA; Lippincott Williams and Wilkins; 2009pp.23-27
  2. Oakes MN, Quint EH, Smith YR, Cederna PS. Early staged reconstruction in young women with severe breast asymmetry. J Pediatr Adolesc Gynecol 2009;22(4):223-228
  3. Caonette-Laberge L, Bortoluzzi PA. Correction of breast asymmetry in teenegers. Philadelphia PA; Saunders; 2010. 601-630
  4. Wincour S, Lemaine V. Hypoplastic breast anomalies in the female adolescent breast. Semin Plast Surg 2013; 27(1):42-48
  5. Tanner SM, Whitehouse RH. Clinical longitudinal standards for height, weight,height velocity, weight velocity, and stages of puberty. Arch Dis Child 1976;51(3):170-9
  6. Mark A Sperling. Pediatric Endocrynology, third edition. Sannders Elselvier, 2008 pp 557-558
  7. van Aalst JA, Phillips JD, Sadove AM. Pediatric chest wall and breast deformities. Palst Reconstr Surg 2009;124 (1 Suppl):38e-49e
  8. Vandenbussche F. Asymmetries of the breast: a classification sustem. Aesthetic Plast Surg 1984;8(1):27-36
  9. Geeroms B, Braysem L, Aertsen M. An atypical case of poland Syndrome with bilateral features and dextroposition of the heart: In the work-up of Poland syndrome, different imaging modalities are necessary to depict the full extent of the anomalies. J Belg Soc Radiol 2019;103(1):45
  10. Ucar A, Wong JSC, Darendalier S, Holly MP levoith D. Editorial: Hot Topics of Debate on Turnner Sy: Growth, Puberty, Cardiovascular risks, Fertility and Psychosocial development. Front Endocrinol (Lansanne) 2019 Ser 19;10:644
  11. Sun J, Qiao Q, Qi K. The difference in estrogen receptor protein level between breast hypertrophy and micromastia. Plast Reconstr Surg 2004;113(7):2241-2
  12. Ma Y, Katiyar P, Jones LP, et al. The breast cancer susceptibility gene BRCA1 regulates progesteron receptor signaling in mammary epithelial cells. Mol Endocrinol 2006; 20(1):14-34
  13. Weinberg CR, Shi M, DeRoo LA, Taylor JA, Sandler DP, Umbach DM. Asymmetry in family history implicates nonstandard genetic mechanisms: application to the genetics of breast cancer. PLoS Genet 2014 20;10(3):e 1004174
  14. Scutt D, Lancaster GA, Manning JT. Breast asymmetry and predisposition to breast cancer. Breast Cancer Res 2006;8(2):R14
  15. Scutt D, Manning JT, Whitehouse GH, Leinster SJ, Massey CP. The relationship between breast asymmetry, breast size and the occurrence of breast cancer. Br J Radiol 1997;70(838):1017-21
  16. Klit A, Siemssen PA, Gramkow CS. Treatment of congenital unilateral hypoplastic breast anomalies using autologous fat grafting: A study of 11 consecutive patients. J Plast Reconstr Aesthet Surg 2015;68(8):1106-11
  17. Derder M, Whitaker IS, Boudana D, et al. The use of lipofilling to treat congenital hypoplastic breast anomalies: preliminary experiences. Ann Plast Surg 2014;73(4):371-7