TY  - CHAP
M1  - Book, Section
TI  - Hypogonadotropic Hypogonadism
A1  - Balasubramanian, Ravikumar
A1  - Crowley, William F.
A2  - Murray, Michael F.
A2  - Babyatsky, Mark W.
A2  - Giovanni, Monica A.
A2  - Alkuraya, Fowzan S.
A2  - Stewart, Douglas R.
Y1  - 2014
N1  - 
T2  - Clinical Genomics: Practical Applications in Adult Patient Care
AB  - Disease  summary:Kallmann  syndrome  (KS;  hypogonadotropic  hypogonadism  and  anosmia)  and  normosmic  idiopathic  hypogonadotropic  hypogonadism  (nIHH)  represent  the  two  major  clinical  presentations  of  humans  with  isolated  deficiency  of  gonadotropin-releasing  hormone  (GnRH).Both  KS  and  nIHH  are  more  common  in  males  than  females  (~3:1)  and  affected  patients  present  with  either  complete  or  partial  absence  of  puberty.During  development,  GnRH  neurons  arise  from  the  embryonic  olfactory  placode  and  migrate  in  utero  into  the  mediobasal  hypothalamus  where  they  secrete  GnRH  in  a  pulsatile  manner.  Combined  developmental  failure  of  both  olfactory  and  GnRH  neuronal  migration  result  in  KS,  while  isolated  neuroendocrine  failure  of  anatomically  normal  GnRH  neurons  results  in  nIHH.Hereditary  basis:70%  of  KS  or  nIHH  cases  are  apparently  sporadic  while  the  remainder  is  familial.  However,  on  more  detailed  family  expansion,  a  familial  pattern  can  become  evident.  The  inheritance  pattern  is  heterogeneous.  X-linked  recessive,  autosomal  dominant,  autosomal  recessive,  and  oligogenic  modes  of  inheritance  are  all  documented.Differential  diagnosis:In  adolescents  presenting  with  delayed  puberty,  the  main  differential  diagnosis  is  constitutional  delay  in  puberty  (CDP).  Time  is  the  major  factor  in  distinguishing  CDP  and  KS  or  nIHH  as  subjects  with  CDP  eventually  enter  puberty  spontaneously  and  achieve  normal  sexual  maturation.Other  anatomic  (CNS  or  pituitary  tumors,  head  trauma,  CNS  irradiation,  etc)  or  functional  (chronic  systemic  illness,  eating  disorders,  malnutrition)  causes  of  hypogonadotropic  hypogonadism  must  be  excluded.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102701911
ER  -