We report here a young adult with a late presentation of aromatase deficiency to highlight the differences between the two conditions. A 27 year old lady presented to us with history of primary amenorrhea and masculine voice. [ncbi.nlm.nih.gov]

• Short Stature

  The main clinical manifestations in patients with primary amenorrhea were primordial or absent uterus (95.9%), invisible secondary sex features (68.8%), little or absent ovary (62.6%), and short stature (30.0%). [ncbi.nlm.nih.gov]

• Developmental Delay

  More common in boys with delayed puberty, constitutional delay of puberty is an uncommon etiology of primary amenorrhea in girls. [fogsi.org]

  Laurence-Moon-Biedl and Prader-Willi syndromes present with obesity, developmental delay, and amenorrhea due to hypothalamic dysfunction. Kallmann syndrome presents as amenorrhea with anosmia. [pedsinreview.aappublications.org]

• Loss of Appetite

  Either of these problems may be due to: Anorexia (loss of appetite) Chronic or long-term illnesses, such as cystic fibrosis or heart disease Genetic defects or disorders Infections that occur in the womb or after birth Other birth defects Poor nutrition [ufhealth.org]

• Fear

  General ill health, a change in climate or living conditions, emotional shock or, frequently, either the hope or fear of becoming pregnant can sometimes stop the menstrual flow. dietary amenorrhea cessation of menstruation accompanying loss of weight [medical-dictionary.thefreedictionary.com]

  All patients should be asked privately whether they have ever had sex, coerced or voluntary, but pregnancy testing should be obtained universally because patients may fear the consequences of disclosure. [pedsinreview.aappublications.org]

• Amenorrhea

  primary amenorrhea (diagnosis), Amenorrhoea primary, amenorrhea primary, Amenorrhea, primary, Primary amenorrhoea (finding), Primary Amenorrhea, Delayed Menarche, Primary physiologic amenorrhea, Primary amenorrhea, Primary amenorrhoea, Primary physiologic [fpnotebook.com]

  Although hypothyroidism is known to produce secondary amenorrhea, hyperprolactinemia, and pituitary enlargement, this is believed to be the first computed tomographic documentation of such a "pseudoprolactinoma" presenting as primary amenorrhea. [ncbi.nlm.nih.gov]

• Imperforate Hymen

  This may include causative conditions such as Müllerian agenesis, vaginal atresia, cryptomenorrhea, imperforate hymen and Asherman’s syndrome. [news-medical.net]

  Cryptomenorrhea due to imperforate hymen and transverse vaginal septum are well known but cervical agenesis though mentioned in literature is a rarity. [mjdrdypu.org]

  For menstruation to occur there must be a functioning hypothalmic-pituitary axis and no structural abnormalities that may prevent menstruation e.g. uterine agenesis, imperforate hymen. [gpnotebook.com]

  […] dysgenesis, premature ovarian failure, menopause, ovarian tumor, polycystic ovarian syndrome (PCOS), ovarian enzyme deficiency, chromosomal abnormalities (e.g., 45XO) Uterus Intrauterine scarring, cervical agenesis, androgen insensitivity Outflow Tract Imperforate [sketchymedicine.com]

  If the patient has normal pubertal development and a uterus, the most common etiology is congenital outflow tract obstruction with a transverse vaginal septum or imperforate hymen. [aafp.org]

• Renal Insufficiency

  insufficiency Diabetes Immunodeficiency Inflammatory bowel disease Thyroid disease Severe depression or psychosocial stressors Cranial radiation Excessive exercise Excessive weight loss or malnutrition Hypothalamic or pituitary destruction Kallmann syndrome [aafp.org]

This review's aims are to define primary amenorrhea and describe the various causes, their workups, associated comorbidities, and treatment options. [ncbi.nlm.nih.gov]

A pregnancy test should always be included in the workup of secondary amenorrhea, regardless of reported history. The most common causes of secondary amenorrhea include: Pregnancy: second most common cause of secondary amenorrhea. [pedclerk.bsd.uchicago.edu]

Initial workup of primary and secondary amenorrhea includes a pregnancy test and serum levels of luteinizing hormone, follicle-stimulating hormone, prolactin, and thyroid-stimulating hormone. [aafp.org]

• Hyperprolactinemia

  Primary amenorrhea is rarely secondary to hyperprolactinemia. This case highlights the importance of obtaining a complete family history to identify patients who may have hyperprolactinemia secondary to multiple endocrine neoplasia type 1 syndrome. [ncbi.nlm.nih.gov]

  The causes for hyperprolactinemia in these patients and the clinical follow-up are discussed. [journals.lww.com]

CONCLUSIONS: Following treatment, girls with ED and primary amenorrhea progress through puberty at a slowed rate. [ncbi.nlm.nih.gov]

Amenorrhea is usually curable with hormone treatment or removal of the underlying cause. Treatment may be delayed to age 18 unless the cause can be identified and treated safely. [nmihi.com]

The prognosis after gross total resection is likely favorable; however, long-term follow-up is indicated for these rare neoplasms. [ncbi.nlm.nih.gov]

[…] karyotyping Pelvic ultrasound is needed to determine the presence of a uterus Differential Diagnosis Pregnancy Contraceptive use Refer to evaluation Treatment Directed at underlying pathology e.g., vaginal outlet obstruction will require surgical correction Prognosis [medbullets.com]

Treatment of infertility in these groups of patients is directed towards the cause of the amenorrhea and the prognosis is generally good. [laivfclinic.com]

What Is Amenorrhea Prognosis? Amenorrhea is typically not a life-threatening condition. The prognosis for amenorrhea depends upon the underlying cause and the type of treatment that is available. [emedicinehealth.com]

We identified 3 varied etiologies. [ncbi.nlm.nih.gov]

BJOG: An International Journal of Obstetrics & Gynaecology, 1958;65: 734–738. doi: 10.1111/j.1471-0528.1958.tb08863.x Malkani PK : Epidemiology of genital tuberculosis in India. In Rippman ET, Wenner R (eds): Latent Genital Tuberculosis. [jpgo.org]

Epidemiology The prevalence of non-physiological amenorrhoea (in women of menstruating age) is around 3-4%. [ 1 ] Secondary amenorrhoea is more common in athletes. [patient.info]

"Celiac disease and reproductive disorders: meta-analysis of epidemiologic associations and potential pathogenic mechanisms". Human Reproduction Update. 20 (4): 582–93. doi : 10.1093/humupd/dmu007. [en.wikipedia.org]

Epidemiology/Normal Menses The median age of menarche in the United States is 12.4 years, with African-American girls experiencing menarche slightly earlier on average than non-Hispanic white and Mexican-American girls, as determined in the third National [pedsinreview.aappublications.org]

Reproductive endocrinology: physiology, pathophysiology and clinical management. Philadelphia: WB Saunders, 1978: 189–240. Google Scholar 3. Coulam CB. Testicular regression syndrome. Obstet Gynecol 1979; 53: 44–49. PubMed Google Scholar 4. [link.springer.com]

Crowley Jr Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations [5.] S.N. Kalantaridou, G.P. [elsevier.es]

Pathophysiology, genetics, and treatment of hyperandrogenism. Pediatr Clin North Am 1997;44:375-95. Fardella CE, Hum DW, Homoki J. Miller WL. Point mutation of Arg440 to his cytochrome P450c 17 causes severe 17 alfa hydroxylase deficiency. [revista.fecolsog.org]

Defining the level of primary dysfunction is critical in determining the pathophysiology of amenorrhea. Hypothalamus, pituitary and ovaries form a functional endocrine axis, known as HPO axis with hormonal regulations and feedback loops. [emedicine.medscape.com]

Can amenorrhea be prevented? Amenorrhea is a symptom and not a disease in itself. Therefore, amenorrhea can be prevented only to the extent that the underlying cause can be prevented. [medicinenet.com]

How can Primary Amenorrhea be Prevented? Primary Amenorrhea is a disorder that may be prevented if the underlying cause is known and can be treated. Prevention of the condition is based on the underlying factors that lead to Primary Amenorrhea. [dovemed.com]

Nurses working with adolescents may prevent more serious problems through early identification and intervention. [ncbi.nlm.nih.gov]

PCOS prevents the follicles from generating mature eggs, and when there’s no egg production, the follicles expand with fluid, forming cysts. [livestrong.com]