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Abstract
En 中文
Introduction: 46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent impuberism, primary amenorrhea, and hypergonadotropichypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. An association between these two conditions is very exceptional and appears to be coincidental, independent of chromosomal anomalies. Here, we report a case of 46,XX gonadal dysgenesis and MRKH syndrome.
Case Report: A 15 year 9 months old female patient presented to our hospital with complaints of primary amenorrhea and absence of secondary sexual characters. There was no family history of consanguinity, miscarriages, neonatal deaths, or any other family member with primary amenorrhea. Her birth, perinatal, and neonatal periods were uneventful. No history of developmental delay. No history suggestive if systemic illness. Her height was 148.5 cm (10th centile) and weight 38 kg with normal intelligence. Her pulse rate was 86 beats/min and blood pressure were 100/70 mm of mercury. Scoring of pubic, axillary hair growth, and breast development were Tanner’s Stage 1. External genital examination revealed normal labia majora and minora, normal clitoris. There was no facial dysmorphism, webbing of neck, or wide carrying angle. Echocardiography revealed normal chamber dimensions with no other cardiac abnormalities, and abdominal ultrasound examination revealed single horseshoe-shaped kidney at ectopic location and absence of uterus and ovaries suggestive of MRKH type B. The abdominal ultrasound findings were confirmed later by magnetic resonance imaging (MRI) of the abdomen and pelvis revealed bladder and rectum without interposition of uterus. Bilateral ovaries are also not seen in the adnexa. Fundus examination and pure tone audiometry were normal. Karyotyping revealed normal 46,XX complement. Her hemogram, renal and liver function tests were also normal. Endocrine evaluation revealed elevated levels of follicle-stimulating hormone (74 IU/L) and luteinizing hormone LH (45 IU/L) with low estradiol (<5 pg/ml) levels. Her blood sugar, thyroid function tests, serum cortisol, and prolactin levels were normal. Hormonal therapy with ethinyl estradiol 10 mg/day was started for the development of secondary sexual characteristics and to prevent osteoporosis. There remains the unsolved problem of infertility.
Discussion: The paramesonephric ducts develop lateral to the gonads and play an essential role in the development of uterine tubes, uterus, superior part of the vagina and broad ligaments. Estrogens may influence development of the paramesonephric system. Absence of mullerian-inhibiting substance is also essential for its development. Mutations of the gene encoding the antimullerian hormone receptor and the lack of estrogen receptors during embryonic development have been hypothesized to cause MRKH syndrome [1]. An undifferentiated gonad may produce antimullerian hormone in earlier embryologic period. But this hypothesis cannot be valuable without the presence of the chromosome Y [2]. Occurrence of these two conditions compromise the fertility both in the mechanic and hormonal way.
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