{
 "topic": "Primary Amenorrhea",
 "slug": "primary-amenorrhea",
 "category_id": 15002,
 "passage_count": 14,
 "source_chars": 12227,
 "enough_material": true,
 "references": [
  {
   "title": "MedStudy Pediatrics Core 11th Edition 2024-2025",
   "author": null,
   "pages": [
    176
   ]
  },
  {
   "title": "Signs and Symptoms in Pediatrics",
   "author": "Henry M. Adam,Jane Meschan Foy",
   "pages": [
    64
   ]
  },
  {
   "title": "Pediatric Board Study Guide",
   "author": null,
   "pages": [
    106
   ]
  },
  {
   "title": "Cover",
   "author": "Vitalsource Download",
   "pages": [
    1188
   ]
  },
  {
   "title": "Pediatric Decision-Making Strategies",
   "author": "Pomeranz, Albert J.",
   "pages": [
    156
   ]
  },
  {
   "title": "Textbook of Pediatric Gastroenterology, Hepatology and Nutrition (Stefano Guandalini, Anil Dhawan)",
   "author": null,
   "pages": [
    36
   ]
  },
  {
   "title": "Berkowitz's Pediatrics",
   "author": "Berkowitz, Carol D.;",
   "pages": [
    444,
    445,
    961
   ]
  },
  {
   "title": "PPE: Preparticipation Physical Evaluation",
   "author": "American Academy of Family Physicians, American Academy;American Academy of Pediatrics;American College of Sports Medicine;American Medical Society for Sports Medicine, American Medical;",
   "pages": [
    176
   ]
  }
 ],
 "passages": [
  {
   "source": "MedStudy Pediatrics Core 11th Edition 2024-2025, p. 176",
   "text": "[Figure OCR, page 176, figure 1] 5-14 THE DEVELOPING ADOLESCENT Primary amenorrhea is clinically defined as the lack of menses: * by 15 years of age with normal growth and secondary sexual characteristics, * by 13 years of age with complete absence of secondary sexual characteristics, or >3 years after onset of thelarche. Always consider pregnancy. Most often, primary amenor- thea is caused by a genetic or anatomical abnormality. The most common causes of primary amenorrhea include: + Chromosomal abnormality with gonadal dysgenesis, including 45,X (a.k.a, Turner syndrome) (43%) * Outflow tract disorders \u00b0 Miillerian agenesis (absence of vagina, sometimes with absence of uterus; ~ 15%) Transverse vaginal septum or imperforate hymen (~3%) * Physiological delay of puberty; constitutional delay of puberty, chronic systemic disease, acute illness (~ 15%) * Polycystic ovary syndrome (PCOS; ~ 7%) * Weight loss/Anorexia nervosa (~ 2%) * Hypothalamic or pituitary disease (~ 2%)"
  },
  {
   "source": "Signs and Symptoms in Pediatrics, p. 64",
   "text": "**Chapter 4** ## **Amenorrhea** ## _Maria Trent, MD, MPH; Alain Joff e, MD, MPH_ Amenorrhea is a common clinical complaint; its frequency varies based on the gynecologic age of the young woman (the number of months or years elapsed since menarche). For example, in a study of high school adolescent girls, the rates of girls who missed 3 consecutive menstrual periods in a single year were 12.5% in the fi rst year after menarche and 5.4% after 7 postmenarchal years.[1] Traditionally, amenorrhea has been classifi ed as being either primary or secondary. Primary amenorrhea is defi ned as the failure to initiate menstruation, whereas secondary amenorrhea refers to cessation of menses in an adolescent who has previously menstruated. Although some value can be found in knowing whether the absence of menses results from a disruption or lack of initiation, this distinction is of limited clinical utility because many diseases and clinical states cause both primary and secondary amenorrhea."
  },
  {
   "source": "Pediatric Board Study Guide, p. 106",
   "text": "## **Amenorrhea** ## **Primary amenorrhea** - Absence of menarche by 15 years of age - Anovulatory uterine bleeding due to an immature hypothalamic\u2013pituitary\u2013ovarian axis - Commonly seen during the first 1\u20132 years after menarche 3 Adolescent Medicine 95 ![](/tmp/pdf-images/pdf-0106-02.png) **Fig. 3.2** Approach to the adolescent with primary amenorrhea. _LH_ luteinizing hormone, _FSH_ follicle-stimulating hormone, _TSH_ thyroidstimulating hormone, _MRI_ magnetic resonance imaging, _GnRH_ gonadotropin-releasing hormone [9] - The most common cause of irregular bleeding - Due to an immature hypothalamic\u2013pituitary\u2013ovarian axis ## **Clinical features** - Irregular periods and the absence of premenstrual symptoms (e.g., uterine cramping) - Irregular bleeding; \u22652 months without bleeding followed by spotting, heavy bleeding, or sudden and substantial hemorrhage ## **Investigations**"
  },
  {
   "source": "Cover, p. 1188",
   "text": "## **AMENORRHEA** Amenorrhea, the absence of menses, can be either temporary or permanent. Traditionally, there are two categories: primary amenorrhea and secondary amenorrhea. Primary amenorrhea is defined as failure to menstruate either (1) by age 15 in the presence of breast development and normal growth, (2) within 3 years of thelarche, or (3) by age 13 with the absence of secondary sexual characteristics. Also, when delay in secondary sexual development and amenorrhea exists or cyclic pelvic pain accompanies primary amenorrhea, prompt evaluation should occur. Secondary amenorrhea is cessation of menses for greater than 3 months or 90 days. While the etiologies of primary amenorrhea are typically genetic or anatomic, all causes of secondary amenorrhea may also present as primary amenorrhea. The evaluation of infrequent menses with cycle length longer than 6 weeks is the same as amenorrhea in this discussion. see Chapter 534 for further discussion on amenorrhea in the setting of delayed puberty."
  },
  {
   "source": "Pediatric Decision-Making Strategies, p. 156",
   "text": "3[46,XY disorder of sex development (androgen insensitivity ] syndrome), previously known as testicular feminization, occurs in phenotypic females who are chromosomally XY but lack androgen receptors. External genitalia appear female, but the vagina is shallow and testes are intraabdominal. At puberty, breasts develop owing to gonadal estrogens; axillary and pubic hair is absent. LH is increased, FSH is usually normal. 4[Hypothalamic dysfunction leading to amenorrhea is a diagno-] sis of exclusion. It is caused by suppression of gonadotropinreleasing hormone pulsatile secretion and is most commonly associated with chronic illness associated with undernutrition (Crohn disease, celiac disease), stress, excessive exercise, or weight loss and with eating disorders. The female athlete triad consists of disordered eating, amenorrhea, and low bone mass. Withdrawal bleeding may occur with a progestin challenge (see note 9)."
  },
  {
   "source": "Textbook of Pediatric Gastroenterology, Hepatology and Nutrition (Stefano Guandalini, Anil Dhawan), p. 36",
   "text": "**The Spectrum of Autoimmune Enteropathy** ![](/tmp/pdf-images/pdf-0036-01.png) **2** Natalia Nedelkopoulou, Huey Miin Lee, Maesha Deheragoda, and Babu Vadamalayan ## **Introduction** Chronic, unexplained diarrhea in children younger than 3 months old was first characterized as \u201cintractable diarrhea\u201d [1]. The term \u201cprotracted diarrhea\u201d was later used to describe infants with frequent and loose stools severe enough to often require parenteral alimentation as nutritional support [2]. The differential diagnosis of enteropathies in infancy and childhood includes inherited epithelial and congenital transport defects, enzymatic deficiencies, and allergic enteropathy (Table 2.1)."
  },
  {
   "source": "MedStudy Pediatrics Core 11th Edition 2024-2025, p. 176",
   "text": "* Weight loss/Anorexia nervosa (~ 2%) * Hypothalamic or pituitary disease (~ 2%) Secondary amenorrhea is defined as absent menses for > 3 months in adolescents who previously had regu- lar menstrual cycles or for 6 months in those who had irregular cycles. Pregnancy is the most common cause of secondary amenorrhea and can also be the cause of pri- mary amenorrhea (albeit rarely). After pregnancy, other causes include dysfunction of: + Hypothalamus (35%) * Pituitary \u00a2 Hyperprolactinemia (13%) \u00a2 Empty sella (1.5%) * Sheehan syndrome (1.5%) * Ovary * PCOS (30%) \u00b0 Primary ovarian insufficiency (10%) * Uterus (7%) In addition to the categorization of primary and second- ary, amenorrhea can be categorized as hypothalamic, pituitary, ovarian, or outflow tract in etiology. Hypothalamic and pituitary amenorrhea: If the hypo- thalamus is the culprit, it is generally due to partial or complete inhibition of GnRH release. This slows or stops the release of FSH and LH from the anterior pituitary. This"
  },
  {
   "source": "Berkowitz's Pediatrics, p. 444",
   "text": "## _**Primary Dysmenorrhea**_ - w Painful menstruation - w Lower abdominal pain associated with menstruation, usually worse on the first few days of bleeding - w Associated back pain - w Pain sometimes accompanied by nausea, vomiting, fatigue, headache, bloating, and diarrhea - w Symptoms begin 6\u201312 months after menarche ## _**Abnormal Uterine Bleeding**_ - w Prolonged bleeding (>8 days) _or_ - w Excessive bleeding (>6 tampons/pads per day) _or_ - w Frequent uterine bleeding (\u226421 days) - w No demonstrable organic etiology - w Normal laboratory studies, with the possible exception of anemia ## _**Primary Amenorrhea**_ - w No spontaneous menstruation in a girl of reproductive age - w Absence of menarche by age 15 years in a girl with normal pubertal development _or_ - w Absence of menarche by age 13 years in a girl with no secondary sexual development _or_ - w Absence of menarche within 1\u20132 years of reaching full sexual maturation (sexual maturity rating 5)"
  },
  {
   "source": "PPE: Preparticipation Physical Evaluation, p. 176",
   "text": "Menstrual history is important for female athletes, because menstrual cycle abnormalities may be a sign of low energy availability, pregnancy, or other gynecologic or medical conditions. A detailed menstrual history is important if answers to any of the primary evaluation questions indicate a possible menstrual problem. Amenorrhea, both primary and secondary, should be evaluated with additional history. Primary amenorrhea is defined as the absence of menarche at age 15.[45] In addition, lack of physical changes associated with the onset of puberty by age 13 or delay in the progression of pubertal development, including menarche within 5 years of initial breast development, should prompt _further_ endocrine and gynecologic evaluations.[45] Secondary amenorrhea refers to missing at least 3 consecutive menstrual periods in a previously menstruating female; among the most common causes is pregnancy, and this should be considered as a possible cause early in the evaluation. Oligomenorrhea is defined as menstrual"
  },
  {
   "source": "2021_Fleisher_&_Ludwig's_Textbook_of_Pediatric_Emergency_Medicine.epub",
   "text": "This chapter will not specifically discuss primary amenorrhea\u2014that is, failure to menstruate by a specified age, often 16 years. However, some disorders discussed here that cause secondary amenorrhea, may also cause primary amenorrhea as part of an overall delay in pubertal development. DIFFERENTIAL DIAGNOSIS The differential diagnosis of oligomenorrhea is given in Table 51.1 . EVALUATION AND DECISION History"
  },
  {
   "source": "Berkowitz's Pediatrics, p. 961",
   "text": "Acute intermittent porphyria is an uncommon cause of abdominal pain in children. The pain is often colicky and may be associated with constipation, nausea, and vomiting. Neurologic symptoms such as pain or paresthesia in the extremities may be present. Often, symptoms are precipitated by the ingestion of medications (eg, barbiturates, sulfa drugs). Some antispasmodic medications, such as Donnatal elixir, contain phenobarbital and can precipitate an attack. The diagnosis is made by evaluating the urine for the presence of protoporphyrin. Primary peritonitis is secondary to infection with _Streptococcus pneumoniae_ and is seen in children with nephrotic syndrome, cirrhosis, and sickle cell disease and in young girls with fever, abdominal pain, and vaginal discharge and no predisposing condition. ## _**Surgical Conditions**_"
  },
  {
   "source": "Cover, p. 1188",
   "text": "## **DIFFERENTIAL DIAGNOSIS** Do not overlook pregnancy, the most common cause of secondary amenorrhea, as a cause of primary amenorrhea. (see Chapter 80 for more information on the diagnosis of pregnancy.) Beyond pregnancy, the etiologies of primary and secondary amenorrhea include anatomic abnormalities or fall into three categories depending on the function of the pituitary gland in relation to the ovary: hypogonadotropic hypogonadism, hypergonadotropic hypogonadism, and eugonadotropic eugonadism. Another common classification system divides causes based on location of dysfunction within the hypothalamic\u2013pituitary\u2013 adrenal (HPA) axis: hypothalamic, pituitary, ovarian, or other. ## **Hypogonadotropic Hypogonadism**"
  },
  {
   "source": "Berkowitz's Pediatrics, p. 445",
   "text": "_Secondary amenorrhea_ is a state of 3 or more consecutive months of amenorrhea in the girl who has already established menstruation. The most common cause of secondary amenorrhea is pregnancy, which must be ruled out in all adolescents presenting with this symptom, regardless of their acknowledgment of sexual activity. Other causes include systemic illness, significant change in weight, stress, intense physical exertion, eating disorders (eg, anorexia nervosa), and certain medications, such as phenothiazines, glucocorticoids, and heroin. Polycystic ovary syndrome is another common cause of secondary amenorrhea in young adult women, but often it is characterized by a wide range of menstrual irregularities, including abnormal uterine bleeding, oligomenorrhea, and amenorrhea of perimenarcheal onset."
  },
  {
   "source": "Berkowitz's Pediatrics, p. 445",
   "text": "age 16 years in the girl with otherwise normal pubertal development, an absence of menarche by age 14 years in the girl with no secondary sexual development, and an absence of menarche within 1 to 2 years of reaching SMR 5 pubic hair. Causes of primary amenorrhea range from congenital anatomic anomalies to genetic and endocrine conditions. Because many of these disorders can be diagnosed and treated earlier than 16 years of age, however, guidelines have been modified to address when menstrual conditions should be evaluated. Current guidelines encourage a more proactive medical evaluation for girls who lack menses by age 15 years or more than 3 years after the onset of secondary sexual development. Additionally, absence of secondary sexual characteristics by age 13 years is considered abnormal (Box 61.3). A detailed discussion of each etiology that causes primary amenorrhea is beyond the scope of this chapter; see Selected References for more information."
  }
 ]
}