A case report - jacob syndrome (45X/47XXY MOSAICISM) | Journal of Medical Science 2023

Author(s)

Suleman Elahi Malik Endocrinology Division, Department of Medical Specialties, MTI Khyber Teaching Hospital, Peshawar -, Pakistan

Nayab Munib Department of Medicine, MTI Khyber Teaching Hospital,Peshawar -,Pakistan

Javeria Javed Department of Medicine, MTI Khyber Teaching Hospital,Peshawar -,Pakistan

Zabia Jehandad Department of Medicine, MTI Khyber Teaching Hospital,Peshawar -,Pakistan

Iqbal Haider Department of Medicine, MTI Khyber Teaching Hospital,Peshawar -,Pakistan

Abstract

Objective: XYY syndrome is a rare chromosomal aneuploidy that affects males with an incidence of 1 in 1000. Males with this syndrome typically appear normal and have normal sexual responsiveness and fertility. However, they may be taller than average and have a variable risk of cognitive and behavioral deficits. Herein, we report a rare case of XYY aneuploidy presenting with ambiguous genitalia which was initially treated as congenital adrenal hyperplasia. A 7-month-old infant was referred by a pediatrician to the Endocrine Out-patients' department with complaints of ambiguous genitalia by his parents and undescended testes after taking the consent detailed history was taken and a previous medical record was reviewed followed by a detailed examination done. As the suspicion of the chromosomal defect was raised, the patient was advised to do karyotyping. The karyotyping counted 30 cells: 21 cells showed 45 while 09 cells showed 47 chromosomes. thus, the diagnosis of Jacobs syndrome was made and confirmed. Most cases of 47XYY syndrome are not inherited but arise as a random event, mostly by paternal disjunction at meiosis II. However, most patients live a normal life, only requiring conservative management of their behavioral deficits.

Publication Details

Page(s) 157-159

DOI DOI not available

Published Journal: Journal of Medical Science, Volume: 31, Issue: 2, Year: 2023

Keywords

karyotyping Aneuploidy 47XYY Chromosomes abnormality Nondisjunction

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