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Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.
Am J Med Genet. 1985 Nov; 22(3):599-608.AJ

Abstract

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.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2998187

Citation

Mikati, M A., et al. "Microcephaly, Hypergonadotropic Hypogonadism, Short Stature, and Minor Anomalies: a New Syndrome." American Journal of Medical Genetics, vol. 22, no. 3, 1985, pp. 599-608.
Mikati MA, Najjar SS, Sahli IF, et al. Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. Am J Med Genet. 1985;22(3):599-608.
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. American Journal of Medical Genetics, 22(3), 599-608.
Mikati MA, et al. Microcephaly, Hypergonadotropic Hypogonadism, Short Stature, and Minor Anomalies: a New Syndrome. Am J Med Genet. 1985;22(3):599-608. PubMed PMID: 2998187.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. AU - Mikati,M A, AU - Najjar,S S, AU - Sahli,I F, AU - Melhem,R E, AU - Mansour,S, AU - Der Kaloustian,V M, PY - 1985/11/1/pubmed PY - 1985/11/1/medline PY - 1985/11/1/entrez SP - 599 EP - 608 JF - American journal of medical genetics JO - Am J Med Genet VL - 22 IS - 3 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2998187/Microcephaly_hypergonadotropic_hypogonadism_short_stature_and_minor_anomalies:_a_new_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1985&volume=22&issue=3&spage=599 DB - PRIME DP - Unbound Medicine ER -