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Gynaecology & Obstetrics Sex Intersexuality 19dba81a

Young male presents with delayed puberty with decreased FSH, LH, and testosterone. Which of the following is NOT possible?

A
Kallmann syndrome
B
Klinefelter's syndrome
C
Constitutional delay
D
DAX-1 gene mutation
High-Yield Explanation
Ans. is b, i.e Klinefelter's syndromeRef: Leon Speroff 7th/ed, p404-407* Decrease in serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone indicates that this is a case of hypogonadotropic hypogonadism.* Hypogonadism resulting from hypothalamic or pituitary defects is called as hypogonadotropic hypogonadism or central hypogonadism. Examples of hypothalamic defects include Kallmann syndrome. Examples of pituitary defects include hypopituitarism. DAX-1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.* Hypogonadism which results from defects of the gonads is called as primary hypogonadism/hypergonadotropic hypogonadism. Examples include Klinefelter syndrome, mumps, varicocele, etc.In Klinefelters = Testosterone is decreased, which results in increase in LH and FSH.

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