Treatment of congenital hypogonadotropic hypogonadism in male patients
2
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
Congenital hypogonadotropic hypogonadism (CHH) is characterized by complete or partial failure of pubertal development because of inadequate secretion of gonadotropic hormones. CHH consists of hypogonadotropic hypogonadism with anosmia or hyposmia, Kallmann syndrome, and the normosmic variation normosmic idiopathic hypogonadotropic hypogonadism. CHH is one of the few treatable diseases of male infertility, although men with primary testicular dysfunction have irreversibly diminished spermatogenic capacity. The approach to CHH treatment is determined by goals such as developing virilization or inducing fertility. This review focuses on the current knowledge of therapeutic modalities for inducing puberty and fertility in men with CHH.
Abstract
Congenital hypogonadotropic hypogonadism (CHH) is characterized by complete or partial failure of pubertal development because of inadequate secretion of gonadotropic hormones. CHH consists of hypogonadotropic hypogonadism with anosmia or hyposmia, Kallmann syndrome, and the normosmic variation normosmic idiopathic hypogonadotropic hypogonadism. CHH is one of the few treatable diseases of male infertility, although men with primary testicular dysfunction have irreversibly diminished spermatogenic capacity. The approach to CHH treatment is determined by goals such as developing virilization or inducing fertility. This review focuses on the current knowledge of therapeutic modalities for inducing puberty and fertility in men with CHH.
참고문헌 (50)
- Abreu AP, "Pubertal development and regulation", Lancet Diabetes Endocrinol, 4, pp.254~264 (2016)
- Grumbach MM, "The neuroendocrinology of human puberty revisited", Horm Res, 57(Suppl 2), pp.2~14 (2002)
- Palmert MR, "Clinical practice. Delayed puberty", N Engl J Med, 366, pp.443~453 (2012)
- Markosyan Renata, "Patients with disorders of sex development", Annals of Pediatric Endocrinology & Metabolism, 26(2), pp.74~79 (2021), 대한소아내분비학회[DOI]
- Thirumalai A, "Epidemiology of male hypogonadism", Endocrinol Metab Clin North Am, 51, pp.1~27 (2022)
- Mauro Bozzola, "Delayed puberty versus hypogonadism: a challenge for the pediatrician", Annals of Pediatric Endocrinology & Metabolism, 23(2), pp.57~61 (2018), 대한소아내분비학회
- Xie Q, "The role of kisspeptin in the control of the hypothalamicpituitary-gonadal axis and reproduction", Front Endocrinol(Lausanne), 13, pp.925206~ (2022)
- Cho HJ, "Nasal placode development, GnRH neuronal migration and Kallmann syndrome", Front Cell Dev Biol, 7, pp.121~ (2019)
- Christoffer Højrup Renault, "Minipuberty of human infancy – A window of opportunity to evaluate hypogonadism and differences of sex development?", Annals of Pediatric Endocrinology & Metabolism, 25(2), pp.84~91 (2020), 대한소아내분비학회[DOI]
- Spaziani M, "Hypothalamo-pituitary axis and puberty", Mol Cell Endocrinol, 520, pp.111094~ (2021)
- Balasubramanian R, "Human GnRH deficiency : a unique disease model to unravel the ontogeny of GnRH neurons", Neuroendocrinology, 92, pp.81~99 (2010)
- O'Shaughnessy PJ, "Effect of FSH on testicular morphology and spermatogenesis in gonadotrophin-deficient hypogonadal mice lacking androgen receptors", Reproduction, 139, pp.177~184 (2010)
- Rastrelli G, "Factors affecting spermatogenesis upon gonadotropin-replacement therapy : a meta-analytic study", Andrology, 2, pp.794~808 (2014)
- Prior M, "Fertility induction in hypogonadotropic hypogonadal men", Clin Endocrinol(Oxf), 89, pp.712~718 (2018)
- Walker WH, "FSH and testosterone signaling in Sertoli cells", Reproduction, 130, pp.15~28 (2005)
- Zacharin M, "Pubertal induction in hypogonadism : current approaches including use of gonadotrophins", Best Pract Res Clin Endocrinol Metab, 29, pp.367~383 (2015)
- Lenzi A, "Epidemiology, diagnosis, and treatment of male hypogonadotropic hypogonadism", J Endocrinol Invest, 32, pp.934~938 (2009)
- Young J, "Clinical management of congenital hypogonadotropic hypogonadism", Endocr Rev, 40, pp.669~710 (2019)
- Palmert MR, "Genetic approaches to stature, pubertal timing, and other complex traits", Mol Genet Metab, 80, pp.1~10 (2003)
- Stamou MI, "Isolated GNRH deficiency : genotypic and phenotypic characteristics of the genetically heterogeneous Greek population", Eur J Endocrinol, 176, pp.L1~L5 (2017)
- Gach A, "Identification of gene variants in a cohort of hypogonadotropic hypogonadism : Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease", Mol Cell Endocrinol, 517, pp.110968~ (2020)
- Stamou MI, "Discovering genes essential to the hypothalamic regulation of human reproduction using a human disease model : adjusting to life in the"-omics"era", Endocr Rev, 36, pp.603~621 (2015)
- Choi Han Saem, "Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita", Annals of Pediatric Endocrinology & Metabolism, 26(2), pp.126~129 (2021), 대한소아내분비학회[DOI]
- Choe Jaewon, "Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant", Annals of Pediatric Endocrinology & Metabolism, 25(3), pp.192~197 (2020), 대한소아내분비학회[DOI]
- Stamou MI, "Kallmann syndrome : phenotype and genotype of hypogonadotropic hypogonadism", Metabolism, 86, pp.124~134 (2018)
- Topaloglu AK, "Genetics of hypogonadotropic hypogonadism", Endocr Dev, 29, pp.36~49 (2016)
- Bianco SD, "The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism", Nat Rev Endocrinol, 5, pp.569~576 (2009)
- Cariboni A, "Kallmann syndrome and idiopathic hypogonadotropic hypogonadism : the role of semaphorin signaling on GnRH neurons", Handb Clin Neurol, 182, pp.307~315 (2021)
- Maggi R, "GnRH and GnRH receptors in the pathophysiology of the human female reproductive system", Hum Reprod Update, 22, pp.358~381 (2016)
- Pitteloud N, "Complex genetics in idiopathic hypogonadotropic hypogonadism", Front Horm Res, 39, pp.142~153 (2010)
- Main KM, "Early postnatal treatment of hypogonadotropic hypogonadism with recombinant human FSH and LH", Eur J Endocrinol, 146, pp.75~79 (2002)
- Bougnères P, "Effects of an early postnatal treatment of hypogonadotropic hypogonadism with a continuous subcutaneous infusion of recombinant follicle-stimulating hormone and luteinizing hormone", J Clin Endocrinol Metab, 93, pp.2202~2205 (2008)
- Stoupa A, "Efficacy and safety of continuous subcutaneous infusion of recombinant human gonadotropins for congenital micropenis during early infancy", Horm Res Paediatr, 87, pp.103~110 (2017)
- Jayasena CN, "Society for Endocrinology guidelines for testosterone replacement therapy in male hypogonadism", Clin Endocrinol(Oxf), 96, pp.200~219 (2022)
- Bhasin S, "Testosterone therapy in men with hypogonadism : an endocrine society clinical practice guideline", J Clin Endocrinol Metab, 103, pp.1715~1744 (2018)
- Warne DW, "A combined analysis of data to identify predictive factors for spermatogenesis in men with hypogonadotropic hypogonadism treated with recombinant human folliclestimulating hormone and human chorionic gonadotropin", Fertil Steril, 92, pp.594~604 (2009)
- Liu PY, "Induction of spermatogenesis and fertility during gonadotropin treatment of gonadotropin-deficient infertile men : predictors of fertility outcome", J Clin Endocrinol Metab, 94, pp.801~808 (2009)
- Miyagawa Y, "Outcome of gonadotropin therapy for male hypogonadotropic hypogonadism at university affiliated male infertility centers : a 30-year retrospective study", J Urol, 173, pp.2072~2075 (2005)
- Pitteloud N, "Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism", J Clin Endocrinol Metab, 87, pp.4128~4136 (2002)
- Burris AS, "Gonadotropin therapy in men with isolated hypogonadotropic hypogonadism : the response to human chorionic gonadotropin is predicted by initial testicular size", J Clin Endocrinol Metab, 66, pp.1144~1151 (1988)
- Delemarre-Van de Waal HA, "Pulsatile GnRH treatment in boys and girls with idiopathic hypogonadotrophic hypogonadism", Hum Reprod, 8(Suppl 2), pp.180~183 (1993)
- Delemarre-Van de Waal HA, "Induction of testicular growth and spermatogenesis by pulsatile, intravenous administration of gonadotrophin-releasing hormone in patients with hypogonadotrophic hypogonadism", Clin Endocrinol(Oxf), 38, pp.473~480 (1993)
- Hoffman AR, "Induction of puberty in men by long-term pulsatile administration of lowdose gonadotropin-releasing hormone", N Engl J Med, 307, pp.1237~1241 (1982)
- Wei Chao, "Spermatogenesis of Male Patients with Congenital Hypogonadotropic Hypogonadism Receiving Pulsatile Gonadotropin-Releasing Hormone Therapy Versus Gonadotropin Therapy: A Systematic Review and Meta-Analysis", The World Journal of Men's Health, 39(4), pp.654~665 (2021), 대한남성과학회[DOI]
- Swee DS, "Managing congenital hypogonadotrophic hypogonadism : a contemporary approach directed at optimizing fertility and long-term outcomes in males", Ther Adv Endocrinol Metab, 10, pp.2042018819826889~ (2019)
- Dwyer AA, "Gonadotrophin replacement for induction of fertility in hypogonadal men", Best Pract Res Clin Endocrinol Metab, 29, pp.91~103 (2015)
- Anderson RC, "Gonadotropins and their analogs : current and potential clinical applications", Endocr Rev, 39, pp.911~937 (2018)
- Han TS, "What is the optimal therapy for young males with hypogonadotropic hypogonadism?", Clin Endocrinol(Oxf), 72, pp.731~737 (2010)
- Casarini L, "FSH for the treatment of male infertility", Int J Mol Sci (2020)
- Dwyer AA, "Trial of recombinant follicle-stimulating hormone pretreatment for GnRH-induced fertility in patients with congenital hypogonadotropic hypogonadism", J Clin Endocrinol Metab, 98, pp.E1790~E1795 (2013)
