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ContextGonadotropin-releasing hormone (GnRH) has been the standard test for diagnosing central precocious puberty. Because GnRH is no longer available, GnRH analogues (GnRHa) are now used. Random LH concentration, measured by the third-generation immunochemiluminometric assay, is a useful screening tool for central precocious puberty. However, GnRHa stimulation test should be considered, when a basal LH measurement is inconclusive. However optimal sampling times for luteinizing hormone (LH) have yet to be established.PurposeTo determine the appropriate sampling time for LH post leuprolide challenge.MethodsA retrospective analysis of multi-sample GnRHa stimulation tests performed in 155 children (aged 1–9 years) referred for precocious puberty to Texas Children’s Hospital.After 20 mcg/kg of SQ leuprolide acetate, samples were obtained at 0, 1, 3, and 6 hours.ResultsOf 71 children with clinical evidence of central precocious puberty, fifty nine children had a peak LH >5 mIU/mL. 52 (88%) of these responders had positive responses at 1 hour (95% CI is 80–96%), whereas all 59 children (100%) had a peak LH response >5 mIU/mL at 3 hours (95% CI is 94-100%), P = 0.005.ConclusionsA single serum LH sample collected 3 hours post GnRHa challenge is the optimal sample to establish the diagnosis of central precocious puberty.

The 45,X disorder of sexual differentiation (DSD) is a rare disorder. We report long-term follow-up of a 5-year-old African-American male whose evaluation for short stature revealed a karyotype of 45,X der(X)t(X;Y)(p22.3;p11.2)(SRY+). Presence of the SRY (sex-determining region Y) gene resulted in his male development. His chromosome abnormality also resulted in a deletion of the SHOX (short stature homeobox-containing) gene, which partly contributed to his short stature and skeletal features. He underwent normal spontaneous pubertal development, but his final height remained compromised due to advanced bone age, non-optimal response to recombinant human growth hormone (rhGH) treatment during the period of compliance and ultimately non-compliance with rhGH therapy. To our knowledge, this is the first case report describing long-term follow-up of a 45,X male DSD which highlights the similarities and differences from Turner syndrome females.