Amenorrhoea is the transient or permanent absence of menstrual flow and may be subdivided into primary and secondary presentations, relative to menarche.
Primary amenorrhoea: lack of menses by age 15 years in a patient with appropriate development of secondary sexual characteristics, or absent menses by age 13 years and no other pubertal maturation.
Secondary amenorrhoea: lack of menses in a non-pregnant female for at least 3 cycles of her previous interval, or lack of menses for 6 months in a patient who was previously menstruating.
Although overlapping attributes exist between the two groups, the diagnostic approaches vary significantly. The prevalence of primary amenorrhoea in the US is <0.1%, compared with 4% for secondary amenorrhoea. Even when causes of primary and secondary amenorrhoea overlap, the relative likelihoods of these aetiologies may differ. For example, polycystic ovary syndrome (PCOS) may cause either primary or secondary amenorrhoea, but presents usually as secondary amenorrhoea. Many causes of primary amenorrhoea are rare in the general population (e.g., Kallman syndrome). Conditions that may seem to be rare events generally may appear more commonly in this subgroup of adolescent girls presenting with primary amenorrhoea.
Despite the low prevalence of primary amenorrhoea, a prompt and comprehensive assessment by a consultant in reproductive medicine, or a clinician well-versed in adolescent development is warranted, as amenorrhoea is often the presenting sign of an underlying reproductive disorder. A delay in diagnosis and treatment may adversely impact the long-term future of such patients. For example, an adolescent with androgen insensitivity syndrome (AIS) requires counselling for eventual removal of gonads, because these patients carry up to about a 30% risk of gonadal neoplasms. In young teens presenting with PCOS, obesity, and hyperinsulinaemia; behavioural and dietary modifications may prevent subsequent metabolic syndrome.
- Primary hypothalamic amenorrhoea
- Emotional/physical stress, eating disorder or female athlete triad
- Constitutional delay
- Malnutrition or chronic disease state
- Kallman syndrome (hypogonadotrophic hypogonadism)
- Polycystic ovary syndrome (PCOS)
- Non-classic congenital adrenal hyperplasia
- Turner syndrome or mixed gonadal dysgenesis
- Mayer-Rokitansky-Kuster-Hauser syndrome (Mullerian agenesis)
- Outflow tract obstruction, including imperforate hymen or transverse vaginal septum
- Gonadotrophin-releasing hormone (GnRH) receptor deficiency
- Androgen-producing ovarian tumour
- Androgen-producing adrenal tumour
- Bilateral agenesis testes (Swyer syndrome)
- 5-alpha-reductase deficiency
- 17-alpha-hydroxylase (CYP17) deficiency
- Androgen insensitivity syndrome
Meir Jonathon Solnik, MD
Associate Professor of Obstetrics and Gynecology
Temerty Faculty of Medicine
University of Toronto
Head of Gynecology and Minimally Invasive Surgery
Mount Sinai Hospital & Women’s College Hospital
MJS is a consultant for Medtronic, Olympus, Hologic, and Abbvie; and has stock in Field Trip Health Ltd and Felix Health, Canada.
Dr Meir Jonathon Solnik would like to gratefully acknowledge Dr Jessica Papillon-Smith, a previous contributor to this topic.
JP-S declared that she had no competing interests.
Joseph S. Sanfilippo, MD, MBA
Department of Obstetrics, Gynecology, and Reproductive Sciences
Division of Reproductive Endocrinology and Infertility
University of Pittsburgh
JSS declares that he has no competing interests.
Mary Ann Lumsden, BSc Hons, MBBS, MRCOG, MD, FRCOG
Head of Section
Reproductive and Maternal Medicine
University of Glasgow Royal Infirmary
MAL declares that she has no competing interests.
Robert Shaw, MD
Professor and Chair
Department of Neurology
Wake Forest University School of Medicine
RS declares that he has no competing interests.
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