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Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.

Publication ,  Journal Article
Mikati, MA; Najjar, SS; Sahli, IF; Melhem, RE; Mansour, S; Der Kaloustian, VM
Published in: Am J Med Genet
November 1985

Four sibs, three males and one female, had microcephaly, hypergonadotropic hypogonadism, short stature, and multiple congenital anomalies. They had five normal sibs and consanguineous parents. Findings in the affected sibs also included a narrow forehead, synophrys, micrognathia, abnormally folded pinnae, early loss of teeth in three, cubitus valgus in two, genu valgum, gynecomastia, and undescended testes in one. All sibs had normal chromosomes. Results of tests for growth hormone release and adrenocortical function were normal. Luteinizing hormone releasing hormone (LHRH) and human chorionic gonadotropin (hCG) stimulation tests were consistent with primary gonadal failure. Testicular biopsy, performed on two affected males, was normal in one and showed focal atrophy with decreased spermatogenesis in the other. The patients manifest a phenotype different from all other known types of hypergonadotropic hypogonadism and appear to represent a new MCA/MR syndrome.

Duke Scholars

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

November 1985

Volume

22

Issue

3

Start / End Page

599 / 608

Location

United States

Related Subject Headings

  • Thyrotropin-Releasing Hormone
  • Syndrome
  • Pedigree
  • Microcephaly
  • Male
  • Intellectual Disability
  • Hypogonadism
  • Humans
  • Growth Hormone
  • Growth Disorders
 

Citation

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Mikati, M. A., Najjar, S. S., Sahli, I. F., Melhem, R. E., Mansour, S., & Der Kaloustian, V. M. (1985). Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. Am J Med Genet, 22(3), 599–608. https://doi.org/10.1002/ajmg.1320220319
Mikati, M. A., S. S. Najjar, I. F. Sahli, R. E. Melhem, S. Mansour, and V. M. Der Kaloustian. “Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.Am J Med Genet 22, no. 3 (November 1985): 599–608. https://doi.org/10.1002/ajmg.1320220319.
Mikati MA, Najjar SS, Sahli IF, Melhem RE, Mansour S, Der Kaloustian VM. Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. Am J Med Genet. 1985 Nov;22(3):599–608.
Mikati, M. A., et al. “Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.Am J Med Genet, vol. 22, no. 3, Nov. 1985, pp. 599–608. Pubmed, doi:10.1002/ajmg.1320220319.
Mikati MA, Najjar SS, Sahli IF, Melhem RE, Mansour S, Der Kaloustian VM. Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. Am J Med Genet. 1985 Nov;22(3):599–608.

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

November 1985

Volume

22

Issue

3

Start / End Page

599 / 608

Location

United States

Related Subject Headings

  • Thyrotropin-Releasing Hormone
  • Syndrome
  • Pedigree
  • Microcephaly
  • Male
  • Intellectual Disability
  • Hypogonadism
  • Humans
  • Growth Hormone
  • Growth Disorders