Hypogonadism in a Patient with Two Novel Mutations of the Luteinizing Hormone β-Subunit Gene Expressed in a Compound Heterozygous Form

Abstract excerpt

CONTEXT: LH gene mutations are rare; only four mutations have been described. The affected individuals are hypogonadal. PATIENT: We describe the clinical features of a 31-yr-old man who presented with delayed puberty and azoospermia and was found to have hypogonadism associated with an absence of circulating LH. MAIN OUTCOME MEASURES AND RESULTS: The patient had a 12-bp deletion in exon 2 in the LH β-subunit gene...

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