PUBERTAL DEVELOPMENT.pptx Gynecology / Obsgyn

Gynecology .

1. NORMAL AND ABNORMAL PUBERTAL DEVELOPMENT

2. Normal puberty Puberty encompasses the psychological, physical, and endocrinologic changes beginning in late childhood that ultimately allow for reproductive capacity. The average age of onset of puberty in girls is 9 years . Once initiated, it proceeds over an average of 4 to 5 years and culminates in the onset of menses. Secretion of GnRH from the hypothalamus is felt to be responsible for initiating pubertal changes. Although the exact mechanism responsible for turning on the hypothalamus has yet to be elucidated, factors identified as influencing this process include: race/genetic factors. Tanner stages are currently used to evaluate pubertal development in children .

3. Components of the normal puberty include the following: Growth spurt. The growth spurt begins before the onset of other signs of puberty. The peak growth velocity occurs at an average age of 11 to 12 years, usually 1 year before menarche. Thelarche . The onset of breast development usually begins between 9 and 11 years of age. It is a sign of ovarian estrogen production and is completed over approximately 3 years. Tanner stages describe the normal changes in the transition from the prepubertal to the mature breast contour Adrenarche and pubarche . Adrenarche refers to the production of androgens from the adrenal gland , and pubarche is the development of axillary and pubic hair that results from the adrenal and gonadal androgens. Adrenarche is not regulated by the same hypothalamic–pituitary process that governs the rest of puberty . Pubarche usually follows thelarche in the pubertal sequence but can be the first sign of puberty in up to 20% of girls. Again, Tanner stages are used to describe normal pubic hair development Menarche . With menarche, vaginal bleeding occurs for the fi rst time in response to hormonal changes , specifically production of estrogen by the ovary. The average age of the first menses is 12 to 13 years. For the first 2 years following menarche, menses are often irregular because of anovulation or sporadic ovulation

4. Tanner Staging Breast Pubic Hair Stage 1 ( prepubertal ) Elevation of papilla only No pubic hair Stage 2 Elevation of breast and papilla as small mound; areola diameter enlarged; median age: 9.8 years Sparse, long, pigmented hair chiefly along labia majora ; median age: 10.5 years Stage 3 Further enlargement without separation of breast and areola; median age: 11.2 years Dark, coarse, curled hair sparsely spread over mons ; median age: 11.4 years Stage 4 Secondary mound of areola and papilla above the breast; age: 12.1 years Adult-type hair, abundant but limited to mons ; median age: 12 year Stage 5 Recession of areola to contour of breast; median age: 14.6 years Adult-type spread in quantity and distribution; median age: 13.7 years

5. Precocious puberty Delayed puberty

6. Precocious puberty This condition is characterized by the onset of secondary sexual characteristics before 8 years of age in Caucasian girls and before 7 years of age in African American girls . Besides the psychological ramifications inherent in this syndrome, there exists the risk of short stature from early epiphyseal closure . Most cases of precocious puberty are idiopathic .

7. Forms of precocious puberty Central precocious puberty (gonadotropin - dependent precocious puberty). This type of precocious puberty is caused by early activation of the hypothalamic–pituitary–gonadal axis, leading to the onset of hormonal secretion from the ovaries. The most common cause is idiopathic ( 74%). Other causes are rare and include central nervous system lesions such as infection, craniopharyngioma , astrocytoma, neurofibroma , hemangioma of the hypothalamus, hydrocephalus, and neoplasm of the floor of the third ventricle . Peripheral precocious puberty (gonadotropin - independent precious puberty). This type of precocious puberty is caused by secretion of sex steroids from the ovary or exogenous hormone ingestion . These include hormone-producing ovarian or adrenal tumors, McCune–Albright syndrome (triad of peripheral precocious puberty, café-au- lait skin pigmentation, and fibrous dysplasia of bone), ectopic gonadotropin production, and primary hypothyroidism.

8. Precocious puberty/ Diagnosis. Physical and radiologic signs are the basis of diagnosis . Assessment of bone age is critical, usually with a plain film of the wrist of the nondominant hand . An endocrine profile including gonadotropin levels and thyroid function tests must be evaluated. Imaging of the brain with computed tomography (CT) or MRI is essential to rule out an intracranial mass.

9. Precocious puberty/ Management. Therapy is aimed at slowing down accelerated growth; reducing pituitary, ovarian, and adrenal function; Inducing regression of secondary sex characteristics. For idiopathic precocious puberty, the treatment of choice is gonadotropin-releasing hormone ( GnRH ) agonists , which suppress the pituitary and halt the progression through puberty. The treatment is continued until an appropriate age has been reached for resumption of pubertal development. In cases of known etiology, recommended therapy is with surgery, chemotherapy, or radiation therapy as indicated.

10. Delayed puberty Delayed puberty is characterized by the absence of breast development by the age of 13 years or the absence of menses by the age of 16 years.

11. Delayed puberty/ Categories Hypergonadotropic hypogonadism . Hypogonadotropic hypogonadism Eugonadotropic

12. Hypergonadotropic hypogonadism . This condition affects almost 50% of all patients with delayed puberty. It includes conditions in which the ovaries or gonads are not functioning and are unable to respond to gonadotropins; as a result, gonadotropin levels are high. Include: Turner syndrome (45,X), idiopathic premature ovarian failure, Autoimmune ovarian failure, gonadal dysgenesis , and ovarian failure secondary to radiation therapy or chemotherapy

13. Hypogonadotropic hypogonadism . This condition accounts for 10% to 15% of patients with pubertal delay. The ovary is normal; however, there is a lack of production of hormonal stimulation from the hypothalamus. I ncludes: Kallmann syndrome (isolated GnRH defi ciency ); hypothalamic suppression by stress, severe disease, malnutrition; tumor invasion of the pituitary ( prolactinoma or craniopharyngioma ).

14. Eugonadotropic Constitutional delay accounts for 10% to 20% of cases. These patients have normal progression of the stages of puberty; the initiation of the process is simply delayed.

15. Delayed puberty/ Management. Treatment is based on the etiology of the delay. In cases of gonadal dysgenesis when a Y chromosome or fragment of a Y chromosome is present, the gonads should be removed at diagnosis because of the risk of neoplastic degeneration. Otherwise , hormone replacement with estrogen, and subsequently both estrogen and progesterone, is required to promote sexual development and menarche.

16. SPECIAL PROBLEMS OF THE ADOLESCENT Dysmenorrhea Dysfunctional uterine bleeding ( DUB) Amenorrhea Contraception Sexual abuse

17. Dysmenorrhea Defined as cramp-like pain in the lower abdomen associated with menstrual flow . Etiology a. Primary dysmenorrhea accounts for most cases and is attributed to increased prostaglandin production with menses in the presence of normal anatomy. b. Secondary dysmenorrhea results from conditions such as endometriosis and müllerian anomalies with an obstruction in a portion of the out flow tract, which leads to pain in the obstructed segment, but menstrual flow is not affected. Clinical picture. Severe, cyclic, cramp-like pain located in the lower abdomen and pelvis is associated with menses. Pain may radiate to the thighs and back and be accompanied by nausea, vomiting , and diarrhea.

18. Dysmenorrhea/ Management First-line therapy is prostaglandin inhibitors ( nonsteroidal anti- infl ammatory drugs [ NSAIDs ] ). O ral contraceptives If the pain symptoms do not respond to NSAIDs and combined hormonal contraception, then a pelvic ultrasound is indicated. If medical management fails to control the symptoms and the pelvic ultrasound is normal, then laparoscopy is recommended for definitive diagnosis.

19. Dysfunctional uterine bleeding (DUB) DUB is defined as excessive, prolonged, or irregular bleeding not associated with an anatomic lesion. Most adolescent girls have anovulatory menstrual periods for the first 2 to 3 years following menarche . Approximately 2% of adolescents ovulate regularly in the first 6 months after menarche and 18% by the end of the first year, making DUB common in this age group. Etiology. The cause of DUB in 75% of cases is an immature hypothalamic–pituitary axis, resulting in anovulation. Other causes include psychogenic factors, juvenile hypothyroidism, and coagulation disorders (von Willebrand disease).

20. Dysfunctional uterine bleeding (DUB) Clinical picture Menometrorrhagia (irregular, heavy bleeding) is the most characteristic symptom. Bleeding can be prolonged and heavy, in some cases leading to severe anemia. The condition is usually self-limited. Management . Therapy involves the use of cyclic hormonal manipulation with progestins or combined oral contraceptive pills. Bleeding disorders must be ruled out in patients with heavy bleeding as up to 20% of teens with menorrhagia have some sort of bleeding problem.

21. Amenorrhea Primary amenorrhea is defined as no menstrual flow by 16 years of age, or within 2 years of breast development . Chromosomal abnormalities account for approximately 30 % to 40% of all cases of primary amenorrhea . Secondary amenorrhea is menstruation that ceases for more than 6 months.

22. Amenorrhea Müllerian anomalies and vaginal agenesis Hypogonadotropic hypogonadism Gonadal dysgenesis Ovarian failure Polycystic ovary syndrome Systemic illnesses Other endocrine gland disorders

23. Amenorrhea/ Müllerian anomalies and vaginal agenesis account for 20% of cases of primary amenorrhea. The incidence of renal or urinary tract anomalies in patients with müllerian anomalies is approximately 45%. Treatment is usually surgical.

24. Amenorrhea/ Müllerian anomalies and vaginal agenesis Mayer–von Rokitansky – Küster –Hauser syndrome involves vaginal agenesis with or without uterine agenesis. Adolescents may present with cyclic abdominal pain and amenorrhea. Imperforate hymen results in obstructed outflow of menstrual blood . Affected patients present with amenorrhea and cyclic abdominal pain. A bulging introitus and pelvic mass are present on examination . An imperforate hymen is not a true müllerian anomaly because the hymen is derived from the urogenital sinus. However , it is treated as a müllerian anomaly.

25. Amenorrhea/ Hypogonadotropic hypogonadism Characterized by a deficiency of hypothalamic hormone secretion. It accounts for 40% to 50% of all cases of amenorrhea. a. Kallmann syndrome . b. Central nervous system lesions, including craniopharyngioma and pituitary adenoma, may cause hypogonadotropic amenorrhea. c. Anorexia nervosa, a condition characterized by extreme weight loss with no known organic cause , can affect adolescent development and result in amenorrhea. Psychiatric symptoms may be present, and occasionally the outcome is fatal. d. Female athlete triad is a syndrome defined by amenorrhea, disordered eating, and osteoporosis. The etiology most likely involves an inadequate caloric intake for the level of energy expended, which leads to hypoestrogenism and amenorrhea

26. Amenorrhea/Gonadal dysgenesis H ypergonadotropic hypogonadism is characterized by absence of secondary sex characteristics, infantile but normal genitalia, and streak-like gonads that are devoid of germ cells and appear as fibrous white streaks. The presence of a Y chromosome dictates early removal of the gonads because of their propensity for malignancy (25% of cases occur by the age of 15 years). The are different forms of gonadal dysgenesis .

27. Amenorrhea/ Gonadal dysgenesis Hypergonadotropic hypogonadism Turner syndrome (45,X) Swyer syndrome (46,XY) is characterized by a female phenotype with amenorrhea and lack of secondary sex characteristics. Growth is usually normal, and some virilization may occur after puberty, especially when gonadal tumors are present. Swyer syndrome is inherited as an X-linked recessive trait. The clinical picture without virilization and tumor propensity may also occur in 46,XX individuals. This condition is termed pure gonadal dysgenesis and is an autosomal recessive inheritance. Mixed gonadal dysgenesis (45,X/46,XY mosaicism ) is characterized by sexual ambiguity in newborns. Internal structures include müllerian and wolffi an derivatives. Asymmetric development of the gonads is expressed as a testis or gonadal tumor on one side with a streak-like, rudimentary gonad, or no gonad on the other side. Abnormalities of the X chromosome (e.g., mosaicism , isochromosome , short-arm X deletion, long-arm X deletion, and translocation) result in amenorrhea and varying degrees of Turner syndrome.

28. Amenorrhea/Ovarian failure This condition, which is rare in adolescents, is usually attributed to genetic defects (e.g., Turner mosaic [45X/46XX], or deletion a portion of the long arm of the X chromosome ), autoimmune conditions, radiation or chemotherapy for cancers, or galactosemia . Treatment involves estrogen and progesterone replacement.

29. Amenorrhea/Polycystic ovary syndrome Most common cause of anovulation and secondary amenorrhea in the adolescent age group. Characterized by oligomenorrhea , hirsutism , acne, and polycystic-appearing ovaries on ultrasound. The syndrome is associated with obesity (50% to 70%), insulin resistance, and the development of diabetes . Combined hormonal contraceptives are the mainstay of therapy for menstrual cycle regulation and control of hirsutism and acne. Antiandrogen agents are also benefi cial , especially in combination with combined hormonal contraceptives. Weight loss effectively improves symptoms in obese individuals

30. Amenorrhea Systemic illnesses. Renal failure, diabetes mellitus, cystic fi brosis , and hemoglobinopathies (sickle cell anemia and thalassemia) may cause hypothalamic amenorrhea. Other endocrine gland disorders. Thyroid disease, late-onset CAH, Cushing syndrome, and pituitary adenomas may all cause amenorrhea

31. Contraception/Sexual abuse Contraception- Most sexually active adolescents do not use contraception, especially at the time of the first sexual act. Because younger patients probably do not mention contraception, a discussion about the use of contraceptives and preventing the transmission of sexually transmitted diseases should follow a physical examination, regardless of whether the patient is sexually active . Sexual abuse Defined as sexual touch by someone at least 5 years older than the adolescent, sexual abuse incorporates a wide range of behavior, from coerced seduction to violent assault. Rapeis a form of sexual abuse. 1 . Lack of findings on examination does not mean that abuse did not occur. A thorough history, assessment of family and environment, and laboratory studies should accompany the examination to establish the diagnosis. 2. Follow-up studies suggest that many people, particularly adolescents, may remain psychologically impaired and even suffer from posttraumatic stress disorder long after the abuse has ended.