A mother brings her 14-year-old daughter to the office for consultation. The mother is concerned that her daughter is shorter than her friends, and should have started her period by now. On physical examination, the girl is 4 ft 10 in tall. She shows evidence of breast development at Tanner stage 2. She has no axillary or pubic hair. You reassure the mother that her daughter seems to be developing normally.
Educating the mother and daughter, your best advice is to tell them which of the following?
Significant emotional concerns develop when puberty is delayed. By definition, if breast development has not begun by the age of 13 years, delayed puberty should be suspected. Menarche usually follows about 1 to 2 years after the beginning of breast development; if menarche is delayed beyond the age of 16 years, delayed puberty should be investigated. Appropriate laboratory tests include circulating pituitary and steroid hormone levels, karyotypic analysis, and CNS imaging when indicated. An FSH value greater than 40 mIU/mL defines hypergonadotropic hypogonadism as a cause of delayed pubertal maturation. Hypergonadotropic hypogonadism is seen in girls with gonadal dysgenesis, such as with Turner syndrome.
A mother brings her 12-year-old daughter to your office for consultation. She is concerned because most of the other girls in her daughter’s class have already started their period. She thinks her daughter hasn’t shown any evidence of going into puberty yet.
Knowing the usual first sign of the onset of puberty, you should ask the mother which of the following questions?
In the United States, the appearance of breast buds (thelarche) is usually the first sign of puberty, generally occurring between the ages of 9 and 11 years. This is subsequently followed by the appearance of pubic and axillary hair (adrenarche or pubarche), the adolescent growth spurt, and finally menarche. On average, the sequence of developmental changes requires a period of 4.5 years to complete, with a range of 1.5 to 6 years. The average ages of adrenarche/pubarche and menarche are 11.0 and 12.8 years, respectively; however, puberty onset is slightly earlier in African-American girls and in overweight girls. These events are considered to be delayed if thelarche has not occurred by the age of 13 years, adrenarche by the age of 14, or menarche by the age of 16. Girls with delayed sexual development should be fully evaluated for delayed puberty, including central, ovarian, systemic, or constitutional causes.
A 9-year-old girl presents for evaluation of regular vaginal bleeding. History reveals thelarche at the age of 7 and adrenarche at the age of 8.
Which of the following is the most common cause of this condition in girls?
In North America, pubertal changes before the age of 8 years in girls and 9 years in boys are regarded as precocious. Although the most common type of precocious puberty in girls is idiopathic, it is essential to ensure close long-term follow-up of these patients to ascertain that there is no serious underlying pathology, such as tumors of the CNS or ovary. Only 1% to 2% of patients with precocious puberty have an estrogen-producing ovarian tumor as the causative factor. McCune-Albright syndrome (polyostotic fibrous dysplasia) is also relatively rare and consists of fibrous dysplasia and cystic degeneration of the long bones, sexual precocity, and café au lait spots on the skin. Hypothyroidism is a cause of precocious puberty in some children, making thyroid function tests mandatory in these cases. Tumors of the CNS as a cause of precocious puberty occur more commonly in boys than in girls; they are seen in about 11% of girls with precocious puberty.
A 68-year-old Caucasian woman comes to your office for advice regarding her risk factors for developing osteoporosis. She is 5 ft 1 in tall and weighs 105 lb. She stopped having periods at the age of 42 years. She is healthy and walks on a treadmill daily. She does not take any medications. She has never taken hormone replacement therapy (HRT). Her mother died at the age of 71 after she suffered a spontaneous hip fracture.
Which of the following will have the least effect on this patient’s risk for developing osteoporosis?
Osteoporosis is defined as decreased bone mass and microarchitectural disruption which leads to an increased risk of fractures. Fractures may occur in the vertebra, distal forearm (Colles’ fracture), or femur head. Although all races experience osteoporosis, white and Asian women lose bone earlier and at a more rapid rate than black women. Thin women and those who smoke are at increased risk for developing osteoporosis. Other risk factors include advanced age, history of prior fracture, long-term steroid therapy, or excessive alcohol use. Physical activity increases the mineral content of bone in postmenopausal women.
The patient asks how and if she should be tested for osteoporosis.
What is the best method to screen her for osteoporosis?
DEXA is the best method to measure bone density because it is precise, uses low doses of radiation, and has been well studied in terms of how the DEXA results correlate to risk of fracture. In addition, the World Health Organization (WHO) criteria for diagnosis for osteoporosis and osteopenia are based on DEXA results. CT scan may measure bone density, but requires much higher doses of radiation. Peripheral measurement may correlate to DEXA, but the results are difficult to interpret. X-ray is not used to assess bone density.
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