Journal List > J Korean Soc Endocrinol > v.20(2) > 1063774

Kwon, Chon, Koh, Oh, Woo, Kim, Kim, and Kim: A Case of 45,X Turner's Syndrome with Iron Deficiency Anemia due to Menometrorrhagia and Spontaneous Sexual Development

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.

Figures and Tables

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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Table 1
Combined Pituitary Stimulation test with Insulin, TRH and LHRH
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; Not only FSH and LH but also estradiol and progesterone levels are within normal range in this patient, as compared with hormone levels observed during follicular phase in normal women.

* ; T3: triiodothronine (40~200 ng/dL), T4: thyroxine (4.5~12 ug/dL), ACTH: adrenocorticotropin hormone(10~60 pg/mL), GH: growth hormone (<0.5 ng/mL), FSH: follicle stimulating hormone (1.7~8.5 mIU/mL), LH: luteinizing hormone (2~15.4 mIU/mL), PRL: prolactin (0.2~9.4 ng/mL), TSH: thyroid stimulating hormone (0.3~4.0 U/mL), estradiol (follicular phase: 30~100 pg/mL, luteinizing phase: 70~300 pg/mL, ovulatory phase: 156~325 pg/mL), progesterone (follicular phase <3 ng/mL, luteinizing phase >10 ng/mL).

( ); showed in normal range

References

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