OBJECTIVE: Kallmann's syndrome (KS) is defined by the association of olfactory deficit with irreversible, congenital gonadotrophin deficiency (IHH). We present evidence for the existence of a variant form of KS, in which endogenous gonadotrophin secretion recovers spontaneously in later life. DESIGN: Longitudinal clinical study. PATIENTS: Five men with anosmia or severe hyposmia, who originally presented in their late teens or early twenties as a result of severe pubertal delay and were thus presumed to have KS. RESULTS: Spontaneous onset of endogenous gonadotrophin secretion, evidenced by progressive normalization of testicular volume and of serum testosterone concentration, occurred in these men over a period of years following the initial diagnosis. CONCLUSIONS: This variant form of Kallman's syndrome is not well recognized and may well be under-diagnosed. Once full virilization has been induced, males with congenital gonadotrophin deficiency whose testes have significantly increased in size should be reassessed, off androgen replacement therapy, to identify those who no longer require treatment.
OBJECTIVE:Kallmann's syndrome (KS) is defined by the association of olfactory deficit with irreversible, congenital gonadotrophin deficiency (IHH). We present evidence for the existence of a variant form of KS, in which endogenous gonadotrophin secretion recovers spontaneously in later life. DESIGN: Longitudinal clinical study. PATIENTS: Five men with anosmia or severe hyposmia, who originally presented in their late teens or early twenties as a result of severe pubertal delay and were thus presumed to have KS. RESULTS: Spontaneous onset of endogenous gonadotrophin secretion, evidenced by progressive normalization of testicular volume and of serum testosterone concentration, occurred in these men over a period of years following the initial diagnosis. CONCLUSIONS: This variant form of Kallman's syndrome is not well recognized and may well be under-diagnosed. Once full virilization has been induced, males with congenital gonadotrophin deficiency whose testes have significantly increased in size should be reassessed, off androgen replacement therapy, to identify those who no longer require treatment.
Authors: Aniruthan Renukanthan; Richard Quinton; Benjamin Turner; Peter MacCallum; Leighton Seal; Andrew Davies; Richard Green; Jane Evanson; Márta Korbonits Journal: Endocrine Date: 2015-03-05 Impact factor: 3.633
Authors: Ulrich Boehm; Pierre-Marc Bouloux; Mehul T Dattani; Nicolas de Roux; Catherine Dodé; Leo Dunkel; Andrew A Dwyer; Paolo Giacobini; Jean-Pierre Hardelin; Anders Juul; Mohamad Maghnie; Nelly Pitteloud; Vincent Prevot; Taneli Raivio; Manuel Tena-Sempere; Richard Quinton; Jacques Young Journal: Nat Rev Endocrinol Date: 2015-07-21 Impact factor: 43.330
Authors: Valerie F Sidhoum; Yee-Ming Chan; Margaret F Lippincott; Ravikumar Balasubramanian; Richard Quinton; Lacey Plummer; Andrew Dwyer; Nelly Pitteloud; Frances J Hayes; Janet E Hall; Kathryn A Martin; Paul A Boepple; Stephanie B Seminara Journal: J Clin Endocrinol Metab Date: 2013-01-01 Impact factor: 5.958
Authors: Jia Zhu; Ruth E-Y Choa; Michael H Guo; Lacey Plummer; Cassandra Buck; Mark R Palmert; Joel N Hirschhorn; Stephanie B Seminara; Yee-Ming Chan Journal: J Clin Endocrinol Metab Date: 2015-01-30 Impact factor: 5.958