J Korean Soc Endocrinol.  2005 Apr;20(2):160-167.

A Case of 45,X Turner's Syndrome with Iron Deficiency Anemia due to Menometrorrhagia and Spontaneous Sexual Development

• Kwon MK
• Chon S
• Koh GP
• Oh SJ
• Woo JT
• Kim SW
• Kim JW
• Kim YS

Abstract

Short stature and gonadal dysgenesis are two characteristic clinical features of Turners syndrome. Very rarely, patients with Turners syndrome may menstruate and even be fertile. We experienced a case of Turners syndrome with spontaneous sexual development and menstruation. A 16-year-old girl was referred for severe anemia and menometrorrahgia. She had nearly normal features, with the exception of a short stature and a single right kidney. Also, she had spontaneous development of secondary sexual characteristics. We performed and anemia study and evaluated her short stature. In chromosomal study of her bone marrow and peripheral blood lymphocytes, she was revealed to have monosomy 45,X. Herein, this case is reported, with a brief review of literature

MeSH Terms

Adolescent
Anemia
Anemia, Iron-Deficiency*
Bone Marrow
Female
Gonadal Dysgenesis
Humans
Iron*
Kidney
Lymphocytes
Menstruation
Monosomy
Sexual Development*
Turner Syndrome*
Iron

Figure

• 

  Fig. 1 Kidney and pelvis MRI showed only one kidney and agenesis of left kidney. Panel A shows that she has unilateral right kidney and right ovarian cyst (diameter 1.9 cm) and panel B shows left ovarian cyst (diameter 2.0 cm).

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  Fig. 2 General appearance of a 16-year-old 45,X girl, with short stature. She was looked well secondary sexual development.

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  Fig. 3 Pelvic ultrasonography showed both ovarian cysts and endometrial thickening. (A, right ovarian cyst-size 1.54 cm; B, left ovarian cyst-size 3.49 cm; C, endometrial thickness was 0.66 cm)

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  Fig. 4 Bone age on hand. Patient's wrist X-ray revealed a 15-year-old and complete epiphyseal plate closure

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  Fig. 5 Karyotype from peripheral blood lymphocyte showed 45,X

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