Initial evaluation, based on a detailed history and complete clinical exam, will establish undeveloped, partially or completely developed secondary sex characteristics and precise growth development, look for indications of etiology and assess the degree of anxiety of the patient and her parents. Family history will be studied for consanguinity, delayed puberty onset in parents or siblings, and cases of anosmia or infertility. The patient history will include any disorders during pregnancy, difficulties during labor and delivery with birth trauma, prematurity or hypotrophy, problems of linear growth, anosmia or inadequate nutritional status during childhood associated or not to a chronic disease of the lungs, heart, kidney, blood or gastrointestinal tract. This exam will also focus on food-related behaviors, in particular selective or inadequate diets or signs of anorexia nervosa, excessive intensive sports practice or psychological, affective, relational troubles.
The physical exam includes examination of the breasts (glandular tissue and areolar size), pubic and axillary pilosity and external genitalia rated according to the standard stages; this exam helps to discriminate between true infantilism, arrested pubertal development and primary amenorrhea. Determination of height and weight, as well as the standard deviations from the mean value for chronological age, will be included in a comprehensive chart since birth, completed by the height velocity curve. Physical examination may find associated signs such as galactorrhea, congenital malformations or neurological signs.
Complementary studies include first FSH and LH determination to discriminate between gonadal peripheral origin with high FSH level, hypogonadotropic deficiency with low FSH and LH levels and primary amenorrhea with mature adult gonadotropin secretions. Radiographic bone age determination will then help to interpret linear growth in relation to pubertal development, and pelvic ultrasound will confirm the presence of ovaries and uterus and rate their developmental stage.
Revision date: July 9, 2011
Last revised: by David A. Scott, M.D.