A child with decreased levels of LH, FSH and Testosterone presents with delayed pubey. Which of the following is the most likely Diagnosis
Correct Answer: Kallman's syndrome
Description: Kallmann syndrome (KS) is a geneticdisorder that prevents a person from staing or fully completing pubey. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a total lack of sense of smellor a reduced sense of smell. If left untreated, people will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably are infeile and are at increased risk of developing osteoporosis.A range of other physical symptoms affecting the face, hands and skeletal system can also occur Lab tests Early morning hormonal testing including FSH, LH, testosterone, oestrogen and prolactin. GnRH and/or hCG stimulation test to determine activity of hypothalamus and pituitary. Sperm test Liver function, renal function and inflammation marker testing. Karyotype to check for chromosomal abnormalities. Reference: GHAI Essential pediatrics, 8th edition
Category:
Pediatrics
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