Review Note

A mother brings her daughter in to see you for consultation. The daughter is 17 years old and has not started her period. She is 4 ft 10 in tall. She has no breast budding. On pelvic examination, she has no pubic hair. By digital examination, the patient has a cervix and uterus. The ovaries are not palpable. As part of the workup, serum FSH and LH levels are drawn and both are high. Which of the following is the most likely reason for delayed puberty and sexual infantilism in this patient?

• Adrenogenital syndrome (testicular feminization) 
• McCune-Albright syndrome
• Kallmann syndrome
• Gonadal dysgenesis
• Müllerian agenesis
  

Delayed puberty is a rare condition, usually differentiated into hypergonadotropic (high FSH and LH levels) hypogonadism or hypogonadotropic (low FSH and LH) hypogonadism. The most common cause of hypergonadotropic hypogonadism is gonadal dysgenesis (ie, the 45, Turner syndrome). Hypogonadotropic hypogonadism can be seen in patients with hypothalamic-pituitary or constitutional delays in development. Kallmann syndrome presents with amenorrhea, infantile sexual development, low gonadotropins, normal female karyotype, and anosmia (the inability to perceive odors). In addition to these conditions, many other types of medical and nutritional problems can lead to this type of delayed development (eg, malabsorption, diabetes, regional ileitis, and other chronic illness). Congenital adrenal hyperplasia leads to early pubertal development, although in girls the development is not isosexual (not of the expected sex) and would therefore include hirsutism, clitoromegaly, and other signs of virilization. Complete Müllerian agenesis is a condition in which the Müllerian ducts either fail to develop or regress early in fetal life. These patients have a blind vaginal pouch and no upper vagina, cervix, or uterus, and they present with primary amenorrhea. However, because ovarian development is not affected, secondary sexual characteristics develop normally despite the absence of menarche, and gonadotropin levels are normal. The McCune-Albright syndrome involves the constellation of precocious puberty, café au lait spots, and polyostotic fibrous dysplasia.

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