NMS Q&A Family Medicine

Growth and Development 219seen at ages younger than 2 years or older than 6 years.Reassurance alone is required unless there is evidence ofpubertal development in other tissues or if growth or boneage is affected. Breast ultrasound mammogram, surgicalconsultation, and serum estradiol, FSH, or LH level testingare not called for, given the foregoing facts.10. The answer is A. Serum testosterone. Virilization islikely to be secondary to an androgen-secreting tumor,congenital adrenal hyperplasia, hyperprolactinemia,hypothyroidism, or drugs. It is not produced by an estrogenor progesterone deficiency, and therefore, checkingthese levels is not appropriate. Checking testosterone,testosterone-binding globulin, and prolactin levels isappropriate. A magnetic resonance imaging would beindicated only if laboratory studies showed hyperprolactinemiaor a suspected gonadotropin-dependent disorder.A general rule in endocrinology is to first define thehormonal abnormality before ordering imaging studies.11. The answer is C. Klinefelter syndrome is the mostcommon cause of male infertility. As a matter of economics,the evaluation of couple infertility should begin with asperm count on the male partner. Normal secondary sexcharacteristics and pubertal timing are typical of Klinefeltersyndrome. Unlike Turner syndrome, testosterone levelsand growth are normal in Klinefelter syndrome patientsuntil about age 14. Klinefelter syndrome is a congenitaldisorder, classically with an XXY karyotype. Each of theother choices is a form of hypogonadotropic hypogonadism.Kallmann syndrome features delayed puberty, anosmia,and small genitalia. Prader–Willi syndrome ischaracterized by childhood obesity. Laurence–Moon syndromemanifests hypogonadotropic hypogonadism andspastic paraplegia with developmental delay in virtually allcases. Bardet–Biedl syndrome shows hypogonadotropichypogonadism, polydactyly, and obesity.12. The answer is D. Ascertaining the presence of testesin the abdomen is crucial to ruling out the possibility ofthe newborn being a fully virilized female with potentiallyfatal salt-losing congenital adrenal hypoplasia as opposedto a case of undescended testicles. This can be effected bymeasurement of plasma testosterone level after humanchorionic gonadotropin stimulation. After that has beenaccomplished, watchful waiting is justified for as long as1 year before the commitment to surgery must be made.Fifty percent of cryptorchid testes will descend by thetime the child reaches the age of 3 months; 80% willdescend by the time the child reaches the age of 1 year.13. The answer is C. Neither fertility nor potential formalignancy can be expected to be comparable with thosein males without the affliction, even if the affliction is correctedby the time the child reaches the age of 1 year. Thus,the abnormalities attendant to cryptorchidism are part ofthe cause of the condition; the nondescent is not the causein itself. In fact, when one side descends within the medicallysatisfactory time interval of 1 year, even the oppositetesticle, normally descended, will exhibit malignant potential,greater than normal, accounting for 25% of malignanciesof the testicles in cases of cryptorchidism. Nevertheless,the recommendation is for medical or surgical correctionto occur in time for at least partial amelioration of infertilityand malignant potential, improved opportunity forclose observation over time, and for cosmetic effect.14. The answer is C. Begin search for an estrogen-secretingtumor. In contrast to boys in puberty, in which over 30%have at least a transient gynecomastia, breast developmentin males before puberty causes concern about estrogenexposure, from either an estrogen-secreting tumor (adrenal,testicular, or bronchogenic) or exogenous estrogenexposure. Interesting is that fact that hyperthyroidism issometimes associated with excess estrogen, but not hypothyroidism.Besides the obvious difference in settingbetween benign transient gynecomastia and an endocrinologicallysignificant condition (pubertal vs. prepubertal),there may be the question of gynecomastia versusenlarged breast in an obese male. In case of obesity, thereis neither palpable breast bud nor particular areola development.Thus, reassurance is inappropriate; treatmentwith testosterone is premature, as is surgical consultationfor excisional biopsy. This condition is associated with noidentifiable familiality. Thyroid function is not feasibly anissue in this case.15. The answer is A. Leuprolide, a GnRH agonist, whenadministered in a steady (as opposed to pulsing) dosage,suppresses the GnRH pulsating release, which is necessaryfor the physiologic stimulation of FSH and LH. Use ofhuman chorionic gonadotropin has no application inprecocious puberty. Cyproterone is a testosterone antagonist,which is appropriate for peripheral precocity (pseudoprecocity).Medroxyprogesterone acetate is the mostwidely prescribed progestogen, which is not relevant inthis case. Spironolactone is, of course, the sole clinicallyapplied aldosterone; it is used in primary and some secondaryforms of aldosteronism.ReferencesHay WW , Levin MJ , Sondheimer JM , et al. , Deterding eds. CurrentDiagnosis & Treatment Pediatrics . New York/Chicago :McGraw-Hill/Lange ; 2009 .Schuster DP , Falko JM . Problems of growth and development .In: Rudy DR , Kurowski K , eds. Family Medicine: House OfficerSeries . Baltimore : Williams & Wilkins ; 1997 : 577 – 590 .Zeitler PS , Travers SH , Barker J , et al. Endocrine disorders . In:Hay WW Jr , Levin MJ , Sondheimer JM , et al. eds. Current PediatricDiagnosis and Treatment. 17th ed . New York : McGraw-Hill ; 2003 : 961 – 1005 .