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 (emang boleh ya?). 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?
a. Adrenogenital syndrome (testicular feminization)
b. McCune-Albright syndrome
c. Kallman syndrome
d. Gonadal dysgenesis
e. Müllerian agenesis
the answer is below…
The United States Medical Licensing Examination, or USMLE for short, is a three-part licensing examination that is required in order to receive a license to practice medicine within the United States.
The USMLE assesses a physician’s ability to apply knowledge, concepts, and principles, and to determine fundamental patient-centered skills that are important in health and disease and that constitute the basis of safe and effective patient care.Examination committees composed of medical educators and clinicians from across the United States and its territories prepare the examination materials each year.
This exam is designed by the Federation of State Medical Boards and the National Board of Medical Examiners to determine whether or not an individual understands and can apply the knowledge necessary to practice medicine safely and intelligently.
The USMLE is actually comprised of three different exams that are referred to as steps, which examine the individual’s knowledge of specific topics related to the field of medicine such as basic science, medical knowledge, medical skills, clinical science, and the application of all of these skills and areas of knowledge in the medical field.
All three steps of the USMLE include a series of computerized multiple-choice questions, but the format of the exam and the information covered in each multiple-choice section is different for each step of the USMLE. The USMLE Step II also has a clinical skills portion that examines an individual’s ability to work with real patients and the USMLE Step III has a computerized patient simulation portion in addition to the multiple-choice section of the exam. In order for an individual to receive a license to practice medicine, the individual must pass all three steps of the USMLE.
The correct answer is d; Gonadal dysgenesis.
Delayed puberty is a rare condition, usually differentiated into hyper-gonadotropic (high FSH and LH levels) hypogonadism or hypogonadotropic (low FSH and LH) hypogonadism. The most common cause of hypergonadotropic hypogonadism is gonadal dysgenesis (i.e., the 45, X 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 (e.g., 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.