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How to approach delayed puberty?

A 16-old ballet dancer girl is brought to you by her mother because she is concerned of her daughter’s delayed periods. On examination, the girl has a body mass index (BMI) of 16, and breasts at Tanner II stage. No axillary or pubic hair is present. Which one of the following should come next in management?

A. Reassurance.
B. Hormonal assays.
C. Abdominal pelvic ultrasound.
D. Combined oral contraceptive pills (COCPs)
E. Referral to adolescent health centre.

Puberty in girls starts with breast development. Growth spurt then occurs and is followed by axillary and pubic hair development. Menstruation often does not occur until two years from the onset of puberty.

There are a few points in the history that can narrow down the diagnosis. Firstly, this girl has Tanner II breast development indicating that she has been exposed to estrogen; however, at 16 years age, more developed breast with higher Tanner stages would be expected.

Another point to consider is the fact that this girl has no pubic or axillary hair. This finding can be either due to arrested or delayed progression of puberty which once has been started (as evident by breast buds), or incomplete androgen insensitivity in which breast development occurs, but the uterus and axillary and pubic hair are absent. In this girl, who is a professional ballet dancer with a BMI of 16, the former is more likely.

Low body weight, excessive physical exercise, and starvation are associated with hypogonadotropic hypogonadism (central hypogonadism). This is frequently observed in patients with anorexia nervosa or bulimia nervosa, but also can be seen in female athletes resulting in primary or secondary amenorrhea. If it occurs during puberty it could impede puberty from normal progression.

Although a decreased serum FSH will be the expected finding associated with the condition, with breast buds present, the most appropriate next step in management is a pelvic ultrasound. Along with physical examination, a pelvic ultrasound is always an essential step for the very first initial assessment of patients with primary amenorrhea who have secondary sexual characteristics (evident by Tanner II breasts or higher) (C is correct). Ultrasound helps for assessment as to presence of a uterus, mullerian agenesis, imperforated hymen, etc as causes to primary amenorrhea. Ideally, both transvaginal and transabdominal pelvic ultrasound should be performed unless virginity precludes transvaginal ultrasound.

(Option A) The girl lags behind normal puberty and cannot be reassured unless the cause is ensured to be constitutional delay of puberty. Interestingly and unlike the common belief, constitutional delay of puberty is not that common in females compared to males.

(Option B) If the uterus is present and there is no anatomical abnormalities obstructing the menstrual flow, a hormonal assessment should follow.

(Option E) Referral to adolescent health centre may be indicated somewhere down the line once other causes of primary amenorrhea other than those related to excessive exercise, weight loss and eating disorders are excluded with high certainty. It is not appropriate at this stage when other probable causes of primary amenorrhea are not yet fully investigated.

EXAM TIP

Following are characteristic features of some important conditions associated with primary amenorrhea:

Mullerian agenesis

1-Normally developed breast (Tanner II or higher)
2-Normally developed axillary and pubic hair
3-Absent uterus

Gonadal dysgenesis (including Turner)

1-No or abnormally developed breasts 
2-Present uterus (but streak ovaries)
3-Often normally developed axillary and pubic hair
4-Increased serum FSH

Androgen insensitivity

1-Normally developed breasts (Tanner II or higher)
2-Absent uterus 
3-Absent axillary and pubic hair

Hypothalamic-pituitary failure

1-No or abnormally developed breasts (Tanner stage inconsistent with predicted age)
2-Present uterus
3-Decreased serum FSH

Mullerian dysgenesis

1-Normal breast development 
2-Normal axillary and pubic hair 
3-Normal hormonal assay (including FSH, LH, prolactin, TSH)
4-Absent uterus (and upper part of vagina)

Transverse vaginal septum/imperforated hymen

1-Normal breast development Tanner II or higher)
2-Normal axillary and pubic hair
3-Normal hormonal assay (including FHS, LH, prolactin, TSH)
4-Cyclical pelvic pain and/or suprapubic mass

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