A Rare Case of Ambiguous Genitalia in Klinefelter Syndrome

Saskia Soraya, Eko Heny Sutanto, Dian Tjahyadi, Hardi Siswo Soedjana
Department of Obstetrics and Gynecology
Department of Surgery, Plastic Surgery and Reconstruction Division
Hasan Sadikin Hospital, Faculty of Medicine, Padjadjaran University, Bandung

Background: Klinefelter syndrome (47 XXY) is one of the abnormality of excessive

number of sex chromosomes in which the male phenotype presents female
characteristics.
Objective: The aim is to describe the clinical features and diagnosis of rare
event.
Case: A 23-year old female presented with small testicle and labia but without any
presence of vagina, small sized uterus, scanty hair growth, and long legs and arms
indicating Klinefelter syndrome. Klinefelter syndrome (47 XXY) is one of the
abnormality of excessive number of sex chromosomes in which the male phenotype
presents female characteristics such as breast development, scanty hair growth, long
arms and legs and high pitch voice. The examination in the above case reveals two X-
chromosomes and one Y-chromosome in the nuclei of cells as the result of
fertilization from XX ovum and Y spermatozoa or from X ovum with XY
spermatozoa. Research studies showed there were 70% XXY male cases in which
their XX chromosomes came from the mother, whereas the other 30% cases their XY
chromosomes came from the father. The result of chromosomal analysis indicates
that the above case was truly Klinefelter syndrome. This patient had a high level of
free testosterone (>1.500 ng/dL), and low level of estradiol (67.90 pg/mL). After a
physcologic consultation, she prefers to be a woman for her sex preference. This
patient has undergone genitalia reconstruction twice and now receive hormone
therapy.
Conclusion: A multidisciplinary approach must be established for the patient with
Klinefelter syndrome with ambiguous genitalia who wished to select the sex
preference with the help of a psychologist who can help support and deal with the
psychosocial aspects of the disorder. This expertise will help facilitate team decisions
based on sex assignment, surgery and hormone replacement therapy.
Keywords: Klinefelter syndrome, ambiguous genitalia, XY chromosomes, genetic
mapping

Nama : Saskia Medinawati Soraya

Judul makalah bebas : A Rare Case of Ambiguous Genitalia in Klinefelter
Syndrome
Nama Institusi : Rumah Sakit Hasan Sadikin Bandung,
Fakultas
Kedokteran Universitas Padjadjaran
Alamat Institusi : Jl. Pasteur No. 38 Bandung
Nomor HP presenter : 082233334165
Email presenter :saskia_soraya@hotmail.com