Congenital hypogonadotropic hypogonadism: implications of absent mini-puberty

被引:1
作者
Dwyer, Andrew A. [1 ,2 ]
Jayasena, Channa N. [3 ]
Quinton, Richard [4 ,5 ]
机构
[1] CHU Vaudois, Endocrinol Diabet & Metab Serv, Lausanne, Switzerland
[2] Univ Lausanne, Inst Higher Educ & Res Healthcare, Lausanne, Switzerland
[3] Imperial Coll London, Hammersmith Hosp, Fac Med, Sect Invest Med, London, England
[4] Newcastle Univ, Inst Med Genet, Endocrine Res Grp, Newcastle Upon Tyne, Tyne & Wear, England
[5] Newcastle Upon Tyne Hosp, Royal Victoria Infirm, Endocrine Unit, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England
关键词
Gonadotropin-releasing hormone; Delayed puberty; Hypogonadism; FOLLICLE-STIMULATING-HORMONE; HUMAN CHORIONIC-GONADOTROPIN; EARLY POSTNATAL TREATMENT; RECOMBINANT HUMAN FSH; SERTOLI-CELL; UNDESCENDED TESTES; KALLMANN-SYNDROME; INHIBIN-B; NONOBSTRUCTIVE AZOOSPERMIA; MENOPAUSAL GONADOTROPIN;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The phenomenon known as "mini-puberty" refers to activation of the neonatal hypothalamo-pituitary axis causing serum concentrations of gonadotrophins and testosterone (T) to approach adult male levels. This early neonatal period is a key proliferative window for testicular germ cells and immature Sertoli cells. Although failure to spontaneously initiate (adolescent) puberty is the most evident consequence of a defective gonadotropin-releasing hormone (GnRH) neurosecretory network, absent mini-puberty is also likely to have a major impact on the reproductive phenotype of men with congenital hypogonadotrophic hypogonadism (CHH). Furthermore, the phase of male mini-puberty represents a key window-of opportunity to identify congenital GnRH deficiency (either isolated CHH, or as part of combined pituitary hormone deficiency) in childhood. Among male neonates exhibiting "red flag" indicators for CHH (i.e. maldescended testes with or without cryptorchidism) a single serum sample (between 4-8 weeks of life) can pinpoint congenital GnRH deficiency far more rapidly and with much greater accuracy than dynamic tests performed in later childhood or adolescence. Potential consequences for missing absent mini-puberty in a male neonate include the lack of monitoring of pubertal progression/lack of progression, and the missed opportunity for early therapeutic intervention. This article will review our current understanding of the mechanisms and clinical consequences of mini-puberty. Furthermore, evidence for the optimal clinical management of patients with absent mini-puberty will be discussed.
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页码:188 / 195
页数:8
相关论文
共 57 条
[1]   Epidemiology, Classification and Management of Undescended Testes: Does Medication Have Value in its Treatment? [J].
Abaci, Ayhan ;
Catli, Gonul ;
Anik, Ahmet ;
Bober, Ece .
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2013, 5 (02) :65-72
[2]   A critical appraisal of the evidence for improved fertility indices in undescended testes after gonadotrophin-releasing hormone therapy and orchidopexy [J].
Biers, S. M. ;
Malone, P. S. .
JOURNAL OF PEDIATRIC UROLOGY, 2010, 6 (03) :239-246
[3]   EXPERT CONSENSUS DOCUMENT European Consensus Statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment [J].
Boehm, Ulrich ;
Bouloux, Pierre-Marc ;
Dattani, Mehul T. ;
de Roux, Nicolas ;
Dode, Catherine ;
Dunkel, Leo ;
Dwyer, Andrew A. ;
Giacobini, Paolo ;
Hardelin, Jean-Pierre ;
Juul, Anders ;
Maghnie, Mohamad ;
Pitteloud, Nelly ;
Prevot, Vincent ;
Raivio, Taneli ;
Tena-Sempere, Manuel ;
Quinton, Richard ;
Young, Jacques .
NATURE REVIEWS ENDOCRINOLOGY, 2015, 11 (09) :547-564
[4]   Relative roles of inhibin B and sex steroids in the negative feedback regulation of follicle-stimulating hormone in men across the full spectrum of seminiferous epithelium function [J].
Boepple, Paul A. ;
Hayes, Frances J. ;
Dwyer, Andrew A. ;
Raivio, Taneli ;
Lee, Hang ;
Crowley, William F., Jr. ;
Pitteloud, Nelly .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (05) :1809-1814
[5]   Effects of an early postnatal treatment of hypogonadotropic hypogonadism with a continuous subcutaneous infusion of recombinant follicle-stimulating hormone and luteinizing hormone [J].
Bougneres, P. ;
Francois, M. ;
Pantalone, L. ;
Rodrigue, D. ;
Bouvattier, C. ;
Demesteere, E. ;
Roger, D. ;
Lahlou, N. .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (06) :2202-2205
[6]   Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism [J].
Bouvattier, Claire ;
Maione, Luigi ;
Bouligand, Jerome ;
Dode, Catherine ;
Guiochon-Mantel, Anne ;
Young, Jacques .
NATURE REVIEWS ENDOCRINOLOGY, 2012, 8 (03) :172-182
[7]   HUMAN PUBERTY - SIMULTANEOUS AUGMENTED SECRETION OF LUTEINIZING-HORMONE AND TESTOSTERONE DURING SLEEP [J].
BOYAR, RM ;
ROSENFELD, RS ;
KAPEN, S ;
FINKELSTEIN, JW ;
ROFFWARG, HP ;
WEITZMAN, ED ;
HELLMAN, L .
JOURNAL OF CLINICAL INVESTIGATION, 1974, 54 (03) :609-618
[8]  
Chan E, 2014, PEDIAT SURG INT
[9]   Ideal timing of orchiopexy: a systematic review [J].
Chan, Emily ;
Wayne, Carolyn ;
Nasr, Ahmed .
PEDIATRIC SURGERY INTERNATIONAL, 2014, 30 (01) :87-97
[10]  
Coughlin MT, 1996, PEDIATRICS, V98, P676