Girls without breast development by 13 years of age should be evaluated for delayed puberty, and girls without menarche by 15 years of age should be evaluated for primary amenorrhea. At this stage, a workup is initiated to rule out organic causes for delayed menarche in a teenaged girl with secondary sexual development. Causes for elevated testosterone levels include Cushing syndrome, ovarian tumors, thyroid disorders, adrenal tumor, ovarian tumor, or hyperandrogenism. Physiology, Menarche - StatPearls - NCBI Bookshelf Two processes contribute to the physical manifestations of puberty: adrenarche and gonadarche. What are the causes of delayed menarche & how does it - HealthTap Menstrual patterns can be an indicator of overall health and self-perception of well-being. Menarche Medical Definition - Verywell Health Interpretation of investigation findings. Examining the optic fundi, estimating the visual fields and evaluating the sense of smell can be helpful, but examination of the genitalia and determination of the status of the pubertal milestones is essential and should be documented for future reference. Amenorrhea: evaluation and treatment. Benign Gynecomastia of Adolescence. Menarche typically occurs between the ages of 10 and 16, with the average age of onset being 12.4 years. Delayed puberty can cause significant psychological distress and low self-esteem.46,47 Girls older than 13 years and boys older than 14 years with possible constitutional delay of growth and puberty or gonadotropin-releasing hormone deficiency may be offered jump-start therapy to induce puberty.5,7,8,25,45 For example, treating boys with testosterone cypionate or enanthate (e.g., 50 to 100 mg intramuscularly per month) and girls with overnight transdermal estradiol (e.g., 6.2 mcg, one-fourth of the 25-mcg 24-hour patch) for three to six months may accelerate attainment of final adult height and generally does not lead to premature epiphysis closure.7,25 If pubertal progression does not occur within four to six months after completing therapy, further evaluation for persistent hypogonadotropic hypogonadism and long-term hormone therapy should be initiated.5,7 Indications for referral to a pediatric endocrinologist are listed in eTable D. This article updates a previous article on this topic by Blondell, et al.48. The disadvantage to this alternative is that irregular bleeding may persist and androgens are not well suppressed.12, Lifestyle modifications are crucial in eliminating comorbidities related to obesity and insulin resistance. Copyright 1999 by the American Academy of Family Physicians. If the patient had no vaginal bleeding, then this could indicate inadequate estrogen or outflow tract obstruction. Peripheral causes are always pathologic and tend to produce an atypical puberty with loss of synchronicity of pubertal milestones (e.g., penile enlargement without testicular enlargement, extensive pubic hair, or menarche in the absence of breast buds). The detailed growth chart that begins at birth is used to estimate the annual growth rate (centimeters [inches] per year) and to determine if and when a growth spurt has occurred (an abrupt increase in the annual growth rate). Master-Hunter T, Heiman DL. A 19-year-old male presents to the emergency department(ED)with headache and fever of 4 days duration. Pediatric Annals. Some form of hyperandrogenism, functional or pathologic, must be considered in any girl with premature or excessive pubic hair. Primary amenorrhea was present with developed secondary sexual characteristics to include Tanner stage IV for breast and pubic hair development in this obese 14-year-old patient for the last 4 years. The most common causes are nonclassic adrenal hyperplasia, premature or exaggerated adrenarche in peripubertal girls, and polycystic ovaries in older girls. Lanzo E, Monge M, Trent, M. Diagnosis and management of polycystic ovary syndrome in adolescent girls. 23 Despite variability, most normal cycles range from 21 to 45 days, even in the first gynecologic year, 16-18 although short cycles of fewer than 20 days and long cycles of more than 45 days may occur. Rev Obstet Gynecol. This condition can occur in girls as young as 18 months and is characterized by premature limited breast development without progression to a mature breast contour. The classic definition for delayed menarche, i.e., primary amenorrhea, has been the absence of menarche by age 15 or 16 years, which is approximately 2.5 to 3 standard deviations from the mean, respectively. Based on her height, weight, and sexual characteristics, her physicians did not anticipate a delay in bone age.11,13 Bone age needs to be considered when hormones such as estrogen are prescribed because the growth plate closes sooner in response to estrogen. The patient does not have any significant past medical history. The search included meta-analyses, randomized controlled trials, observational studies, and reviews. "what is the definition or description of: delayed menarche?" Answered by Dr. Alan Levine: See below: The first sign of puberty in females is a breast bud, which. Author disclosure: No relevant financial affiliations. No treatment other than reassurance is required. Photographs are well suited to this purpose. Copyright 2023 American Academy of Family Physicians. Benign Premature Thelarche. Table 316,9 and Table 415,7,8 summarize history and physical examination findings in the evaluation of early and delayed puberty. Delayed Puberty - Pediatrics - Merck Manuals Professional Edition This includes breast growth, pubic hair, and voice changes. Horm Res Paediatr. History and physical examination should be followed by measurements of serum follicle-stimulating hormone, luteinizing hormone, and testosterone (boys) or estradiol (girls); thyroid function testing; and bone age radiography. 6. Kaplan-Meier cumulative incidence function was used to estimate median age at menarche. Patients may present with acne, hirsutism, deepening of the voice, and androgenic alopecia, if hyperandrogenism is associated with their symptoms.8 An accurate diagnosis is a challenge because symptoms for PCOS can vary with race, age, weight, and medications. Familial gynecomastia is a fairly common heterogenous disorder transmitted as an X-linked recessive trait or a sex-limited dominant trait causing limited breast development around the time of puberty. Hirsutism may be idiopathic or familial, but it also may be produced by some oral contraceptives.20 However, when signs of virilization (e.g., clitoromegaly, increased muscle mass) accompany signs of defeminization (e.g., loss of female contours and breast mass), the cause is always pathologic, and ovarian or adrenal tumors, Cushing's syndrome, hyperprolactinemia, acromegaly, exogenous androgens or abnormalities of androgen action or metabolism must be considered.21 In boys, contrasexual development may be caused by rare, estrogen-secreting adrenal tumors. Some children experience constitutional sexual precocity, but precocity is likely to be pathologic if it occurs in very young children, if there is contrasexual development or if the sequence of normal pubertal milestones is disrupted. Kallmann's syndrome is associated with anosmia or hyposmia, and hypogonadotropic hypogonadism. The goal of medical treatment is to return the patient to a prepubertal pattern of growth and development, which is accomplished with the use of one of the GnRH analogs, such as long-acting injectable leuprolide (Lupron) or short-acting intranasal nafarelin (Synarel). Rossi B, Sukalich S, Droz J, et al. She reports no cyclic pelvic or abdominal pain, vaginal bleeding, vaginal discharge, or vaginal pain; no eating disorder; and no increase in physical activity. It has a mean age of onset of 13 years, ranging from 11 to 15 years. Pathologic gynecomastia occurs in cases of Klinefelter's syndrome and prolactin-secreting adenomata, and in response to a wide variety of drugs (e.g., marijuana, phenothiazines). Most cases resolve in one to two years. Menarche is an important milestone that marks the beginning of your fertility. The reference lists of included reviews were searched for additional studies of interest. The testes are small but firm, and gynecomastia is often present.25 Other syndromes (e.g., Noonan's syndrome) can also be associated with delayed puberty. The age at which pubertal milestones are attained varies among the population studied and is influenced by activity level and nutritional status. Menarche typically follows 2.5 years after the onset of breast development, at an average age of 12.5 years (range: nine to 15 years).15 In boys, testicular enlargement to at least 4 mL in volume or 2.5 cm in length is the first sign of true puberty and occurs at an average age of 11.5 years (range: 9.5 to 14 years).14,813 Physical changes are described using sexual maturity ratings (Table 115,9,14 and Table 215,9,14 ), such as Tanner stages, and are affected by body habitus and demographic factors.15,12,14, Linear growth velocity is about 5 cm per year from four years of age to puberty with a nadir before the pubertal growth spurt. His mother had a history of similar recurrent skin lesions that healed with scarring. Two forms exist: gonadotrophin-dependent . Disorders of Puberty | AAFP Boys taking androgens will have prepubertal-sized testicles. Secondary amenorrhea can be caused by: Pregnancy (the most common cause) Breast feeding. On average, girls complete linear growth at 15 years of age and boys at 17 years of age. Skeletal and muscle growth are late events in male puberty. Menarche - Wikipedia More: Boy's progressing rash could delay surgery. Sometimes, delayed puberty is caused by chronic medical problems, hormonal disorders, radiation therapy or chemotherapy, disordered eating or excessive exercise, genetic disorders, tumors, and certain infections. bloating. This material may not otherwise be downloaded, copied, printed, stored, transmitted or reproduced in any medium, whether now known or later invented, except as authorized in writing by the AAFP. Central Nervous System and Pituitary Lesions. A cost comparison is summarized in Table 3. Jul 1, 2017. At follow-up 4 weeks later, lab results were discussed with the patient and parent. Girls achieve peak height velocity during sexual maturity ratings 2 and 3 (mean: 8.3 cm per year, age 11 or 12 years) and boys during sexual maturity ratings 3 and 4 (mean: 9.5 cm per year, age 13 or 14 years). Test interpretation is controversial, and the pattern of increases of FSH and LH vary with the stage of puberty, but if the patient has central precocious puberty, the hypothalamic-pituitary axis will have been activated, and a two- to threefold rise in FSH and LH will be observed. An ultrasound should be used as a supportive method to help confirm the presence or absence of a thickened uterus and identify structural abnormalities.1 Pelvic ultrasounds are commonly ordered in the adult patient with PCOS to determine thickened uterus, ovarian volume, and number of follicles present. Food Insecurity and the Dangers of Infant Formula Dilution, Getting into the Roots of Childhood Atopic Dermatitis, Opt-Out Chlamydia Screening in Adolescent Care, The Role of the Healthcare Provider Community in Increasing Public Awareness of RSV in All Infants, | Obstetrics-Gynecology & Women's Health, | Changing Landscape in RSV Prevention, | Food Insecurity and the Dangers of Infant Formula Dilution, | Getting into the Roots of Childhood Atopic Dermatitis, | Opt-Out Chlamydia Screening in Adolescent Care, | The Role of the Healthcare Provider Community in Increasing Public Awareness of RSV in All Infants, | Update in Pediatric COVID-19 Vaccines. The treatment is usually surgical. The history should focus on the child's previous growth and development and the precise timing and sequence of the physical milestones and behavior changes of puberty. These are known as secondary sexual characteristics. Laboratory tests are ordered for this patient to rule out the main causes of primary amenorrhea (Table 2). In girls, delayed sexual development is defined as lack of any breast development by 14 years of age or when more than five years pass between initial growth of breast tissue and menarche. Contrasexual Development. A discussion of diet and exercise as a way to normalize her menstrual cycles was initiated as well. What is the diagnosis? A phase of development between childhood and complete, functional maturation of the reproductive glands and external genitalia (adulthood) pubertal changes Adrenarche: activation of adrenal androgen production (axillary and pubic hair, body odor, and acne) Gonadarche: activation of reproductive glands by the pituitary hormones FSH and LH Menstruation Disorders in Adolescents - Medscape Patients with this disorder present with the classic triad of polyostotic fibrous dysplasia, caf au lait spots and precocious puberty.18 It appears to be a heterogeneous syndrome with multiple types of inheritance patterns and may be associated with hyperthyroidism or Cushing's syndrome. Friction-induced blistering on a childs feet. . tiredness. Patient education: Absent or irregular periods (Beyond the Basics) This material may not otherwise be downloaded, copied, printed, stored, transmitted or reproduced in any medium, whether now known or later invented, except as authorized in writing by the AAFP. Thus, family history should include pubertal timing, especially the mother's age of menarche and father's age of reaching adult height.7,9. This content is owned by the AAFP. Prevalence of polycystic ovary syndrome in adolescents. In girls, the most common is Turner's syndrome (about one case in 3,000 live female births). Based on the above evidence, the diagnosis was made of primary amenorrhea secondary to polycystic ovarian syndrome (PCOS; Table 3). Best Pract Res Clin Endocrinol Metab. In boys, delayed sexual development is defined as no testicular enlargement by 14 years of age or the passing of five years between the initial and complete development of the genitalia. A 16-year-old boy with developmental delay and intellectual disability developed dramatic chronic wrinkling of his scalp over a year ago. Primary amenorrhea, defined as the lifelong absence of menses, requires evaluation if menarche has not . Among patients with true precocious puberty, or full activation of the hypothalamic-pituitary-gonadal axis, most girls have an idiopathic etiology, whereas it is commonly due to identifiable pathology on imaging in boys. Treatment depends on the etiology. Over the course of several months, and with appropriate lifestyle modifications, she lost 10 pounds. In boys, delayed puberty is diagnosed if one of the following occurs: No testicular enlargement by age 13 or 14. Ovarian or adrenal androgens may produce virilization in girls. All Rights Reserved. Pediatrics. Germany A female asked: Delay menarche to age 18, but now have regular periods. Abnormal pubertal timing can adversely affect a child's physical and psychosocial well-being and may be caused by a range of generally benign or pathologic etiologies. 2016;29(6):693-702. Polycystic ovarian syndrome is a heterogeneous syndrome that usually presents during adolescence with unexplained hyperandrogenism and persistent anovulatory menstrual abnormality.8 In adolescents, it is characterized by hyperandrogenism and ovulatory dysfunction or abnormal uterine bleeding patterns. Functional hypogonadotropic hypogonadism is caused by chronic disease, stress, or inadequate nutrition, and the condition may be transient or reversed. Amenorrhea is the absence of menstruation attributed to primary or secondary conditions. Menarche (pronounced muh naar kee) is when you get your first period. Development occurs despite low or prepubertal levels of FSH and LH. Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. It is considered the culmination of pubertal events for young girls, though other gradual sex differentiation continues to occur throughout adolescence. Disorders of Puberty: An Approach to Diagnosis and Management 2006;73(8):1374-1382. Newer, high-resolution MRI techniques may be identifying pituitary or central nervous system lesions that were previously undetectable, resulting in a decline in idiopathic cases. Benign Premature Menarche. A diagnosis should be sought for all children with delayed sexual development, which is usually associated with short stature. MRI scanning of the brain and pituitary gland is indicated if an abnormality of the hypothalamic-pituitary axis is suspected. Children with these conditions have premature but otherwise normal-appearing pubertal development. Since not every adolescent with chromosomal abnormalities will have the classic clinical features, a chromosome analysis should be considered, especially in short girls with delayed puberty. 10 - Delayed menarche - Cambridge University Press & Assessment Diet, medication compliance, and exercise have shown 50% probability of improvement in menstrual cyclicity.12, The Endocrine Societys clinical guidelines define the appropriate criteria for the diagnosis of PCOS in the adolescent. When treatment is necessary, it is directed at the underlying cause. These tumors are uncommon but typically secrete the 3 subunit of hCG or, in rare cases, the subunit. In the United States, this has generally been taken to mean the absence of breast development by age 12 to 13 years in females or absence of testicular enlargement by age 13 to 14 years in males. Puberty is considered delayed when there are no signs of breast development by 13 years of age in girls or testicular enlargement by 14 years of age in boys.5,7,25 Clinicians should suspect pubertal delay if there is halting or regression of pubertal development. Finally, her ultrasound demonstrated a postmenarchal female with polycystic ovaries. Definition Amenorrhea is the medical term for the absence of menstruation . Delayed puberty may be functional (constitutional delay, underlying chronic disease, malnutrition, excessive exercise . Further diagnostic testing is used to confirm the initial impression of idiopathic precocious puberty, to localize the abnormality of the pathologic cause or to determine which imaging study to obtain. The patient also does not exercise regularly. Scholes D, LaCroix AZ, Ichikawa LE, Barlow WE, Ott SM. Any dysmorphic features or caf au lait spots may suggest Turner or McCune-Albright syndrome.47,9,27. Girls have a benign central cause for precocious puberty about 50 to 90 percent of the time, but about one half of all boys with early puberty have a pathologic peripheral cause. Menarche ( / mnrki / m-NAR-kee; from Ancient Greek (mn) 'month', and (arkh) 'beginning') is the first menstrual cycle, or first menstrual bleeding, in female humans. Delayed Puberty - Stanford Medicine Children's Health Until the Endocrine Society's criteria were established, there were only the Rotterdam criteria for the diagnosis of PCOS that stated that 2 of the following 3 conditions should be present in women with PCOS: 1. Puberty that happens late is called delayed puberty. Her social history includes living with her mother and older sister, and she is doing well in school at the appropriate grade level. Amenorrhea - symptoms, meaning, average, Definition, Description eTable A includes the differential diagnosis of isolated pubertal changes and true precocious puberty. Girls develop breasts and have an early growth spurt with a radiographic bone age in excess of their chronologic age. She is not concerned with not having a period. Tumors that secrete hCG include hepatomas or hepatoblastomas; teratomas or chorioepitheliomas of the gonads, mediastinum, retroperitoneum or pineal gland; and germinomas of the pineal gland.9 FSH-and LH-secreting tumors are rare. At this point, the girls physicians had confirmed hyperandrogenism attributed to an elevated free and total testosterone level, and a slightly elevated LH to FSH ratio of 2:1. Gonadarche is triggered by the pulsatile release of gonadotropin-releasing hormone, which activates the hypothalamic-pituitary-gonadal (HPG) axis.13 Adrenarche (i.e., adrenal androgen production leading to pubic and axillary hair, body odor, and mild acne) is a separate but usually concurrent process and does not in itself indicate true pubertal onset in boys or girls.47, In girls, increased ovarian estradiol secretion causes breast development at a mean age of 10 years (range: eight to 12 years). A 5-week-old female infant born at 38 weeks presents to her pediatrician with Psychotherapy can play an important role in assisting these patients as they develop physically and emotionally. Assessment for cause - primary amenorrhoea | Diagnosis - CKS At birth, they are an average size. Klein DA, Poth MA. In boys, this produces a clinical syndrome of incomplete precocious puberty. No acne is noted. What's the diagnosis? If abnormal growth velocity is a concern, serum thyroid function, prolactin, and insulinlike growth factor I should be assessed.7 Constitutional delay of growth and puberty can be difficult to distinguish from persistent hypogonadotropic hypogonadism; the latter may be diagnosed at 18 years of age if there is inadequate response to jump-start therapy (which is defined later in this section), and sex steroid replacement is still required.7,45, Bone age indicates the degree of sex steroid effect on bone maturation and future growth potential.7,9 For example, patients with constitutional delay of growth and puberty generally have a delay of more than two years, but this finding is nonspecific.8. 2008;93(12):4780-4786. The patients are generally healthy adolescent males, who appear short for age. Initially, boys have testicular enlargement followed by the appearance of pubic hair, enlargement of the penis and spermarche. Amenorrhea: an approach to diagnosis and management. The treatment also can be initialized depending on the patients complaints and goals. These abnormalities may be associated with delayed puberty. Our review of the minimal existing literature showed that early menarche is associated with early sexual initiation, early pregnancy and some sexually transmitted infections in low- and middle-income countries, similar to what has been observed in high-income . Acanthosis nigricans can be evidence of insulin resistance as well as androgen excess.5 Among adolescent patients, obesity has been associated with the development of hyperandrogenemia and hyperinsulinemia.6. Delayed menarche (Concept Id: C0949173) - National Center for Approach to the patient with delayed puberty - UpToDate Chi-squared and Wilcoxon rank-sum tests were used to assess factors associated with . DAVID A. KLEIN, MD, MPH, JILL E. EMERICK, MD, JILLIAN E. SYLVESTER, MD, AND KAREN S. VOGT, MD. Menarche is defined as the first menstrual period in a female adolescent. What is the definition or description of: delayed menarche? If ovulation never begins, delayed puberty Delayed Puberty Delayed puberty is absence of sexual maturation at the expected time. However, young women can also experience early menarche (i.e., before 11 years) or delayed . To assess for an underlying cause of primary amenorrhoea: Take a history. A female who misses more than three menstrual periods (either consecutively or over the course of a year) should see a health care provider. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. abnormal eye movements. A modest elevation of serum DHEA to the range found normally in early puberty is characteristic.11 However, other adrenal steroid hormone levels are normal, and sex hormone levels are in the prepubertal range. Results. The age at which menarche occurs is closely correlated with skeletal maturity and it is very unusual for a girl to be amenorrhoeic with a bone age of over 15 years. Pertinent review of systems findings include that the patient has denied appetite changes and unexpected weight changes. A 14-year-old female presents for a wellness visit. She was otherwise doing well. This is a rare and poorly understood disorder similar to benign premature thelarche and is thought to be due to transient ovarian activity that is self-limited. She denies sexual activity currently or in the past. 2015;83(6):376-389. Rachel S Dawson, DO, MPH, FAAP, FSAHM. Primary amenorrhea is defined as absence of menarche by age 16 years with normal pubertal growth and sexual development, or a girl who has not started menstruation within 3 years of the first signs of puberty.1,2 There are many causes associated with primary amenorrhea such as anatomic defects, pituitary causes, endocrine gland disorders, and congenital abnormalities.
