241100

HYPOGONADISM, MALE


Other entities represented in this entry:

HYPOGONADISM AND TESTICULAR ATROPHY, INCLUDED

Clinical Synopsis
 

GU
- Male hypogonadism
- Hypospadias
- Small penis
- Normal-sized testes
Thorax
- Gynecomastia
Misc
- Markedly diminished secondary sexual characteristics
Inheritance
- Autosomal recessive

TEXT

Description

Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).


Clinical Features

Ferriman (1954) described a possibly distinct form in 2 sons of first-cousin parents. First-degree hypospadias, small penis, gynecomastia, markedly diminished secondary sexual characteristics, and normal-sized testes were described. In all respects except the parental consanguinity suggesting recessive inheritance, the disorder clinically resembled Reifenstein syndrome (312300).


Cytogenetics

In a Caucasian male with hypogonadism and testicular atrophy, Quintero-Rivera et al. (2007) identified an apparently balanced translocation t(8;10)(p11.2;p13), which was also found in his mother and maternal grandmother. There were no known genes disrupted by the 8p11 breakpoint; however, FISH mapping with overlapping BAC clones of the 10p13 breakpoint demonstrated disruption of the NMT2 gene (603801) between exons 1 and 3. The authors suggested that dysfunctional N-myristolylation is a possible mechanism for testicular failure, either directly or in concert with viral insults.


REFERENCES

  1. Ferriman, D. G. Familial hypogonadism. Proc. Roy. Soc. Med. 47: 439-442, 1954. [PubMed: 13177549, related citations]

  2. Nowakowski, H., Lenz, W. Genetic aspects in male hypogonadism. Recent Prog. Horm. Res. 17: 53-95, 1961. [PubMed: 13729828, related citations]

  3. Quintero-Rivera, F., Leach, N. T., de la Chapelle, A., Gusella, J. F., Morton, C. C., Harris, D. J. Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? Am. J. Med. Genet. 143A: 1796-1798, 2007. [PubMed: 17568424, related citations] [Full Text]


Contributors:
Marla J. F. O'Neill - updated : 9/26/2008
Creation Date:
Victor A. McKusick : 6/3/1986
carol : 08/10/2017
wwang : 09/29/2008
terry : 9/26/2008
carol : 9/12/2007
mimadm : 2/19/1994
carol : 4/1/1992
supermim : 3/16/1992
carol : 3/7/1992
supermim : 3/20/1990
ddp : 10/26/1989

241100

HYPOGONADISM, MALE


Other entities represented in this entry:

HYPOGONADISM AND TESTICULAR ATROPHY, INCLUDED

SNOMEDCT: 48723006;   ICD10CM: E29.1;   DO: 1924;  



TEXT

Description

Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).


Clinical Features

Ferriman (1954) described a possibly distinct form in 2 sons of first-cousin parents. First-degree hypospadias, small penis, gynecomastia, markedly diminished secondary sexual characteristics, and normal-sized testes were described. In all respects except the parental consanguinity suggesting recessive inheritance, the disorder clinically resembled Reifenstein syndrome (312300).


Cytogenetics

In a Caucasian male with hypogonadism and testicular atrophy, Quintero-Rivera et al. (2007) identified an apparently balanced translocation t(8;10)(p11.2;p13), which was also found in his mother and maternal grandmother. There were no known genes disrupted by the 8p11 breakpoint; however, FISH mapping with overlapping BAC clones of the 10p13 breakpoint demonstrated disruption of the NMT2 gene (603801) between exons 1 and 3. The authors suggested that dysfunctional N-myristolylation is a possible mechanism for testicular failure, either directly or in concert with viral insults.


REFERENCES

  1. Ferriman, D. G. Familial hypogonadism. Proc. Roy. Soc. Med. 47: 439-442, 1954. [PubMed: 13177549]

  2. Nowakowski, H., Lenz, W. Genetic aspects in male hypogonadism. Recent Prog. Horm. Res. 17: 53-95, 1961. [PubMed: 13729828]

  3. Quintero-Rivera, F., Leach, N. T., de la Chapelle, A., Gusella, J. F., Morton, C. C., Harris, D. J. Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? Am. J. Med. Genet. 143A: 1796-1798, 2007. [PubMed: 17568424] [Full Text: https://doi.org/10.1002/ajmg.a.31799]


Contributors:
Marla J. F. O'Neill - updated : 9/26/2008

Creation Date:
Victor A. McKusick : 6/3/1986

Edit History:
carol : 08/10/2017
wwang : 09/29/2008
terry : 9/26/2008
carol : 9/12/2007
mimadm : 2/19/1994
carol : 4/1/1992
supermim : 3/16/1992
carol : 3/7/1992
supermim : 3/20/1990
ddp : 10/26/1989