A 5-year-old patient was brought by her parents toour pediatric endocrinology Outpatient clinic with history of progressive bilateral breast budding andenlargement since 3 months ago. . Her previous medical history were uneventful; there was no family history of precocious puberty. Parents were married, nonconsanguineous, she has 1 other sibling who is well . At presentation, our patient was a well looking girl, She had a full female phenotype: On initial physical examination the breasts were abnormally developed compatible with Tanner stage III . Thegynecological exam reveals normal external female genitalia, the vagina and hymen were seen, butPubic hair was not. Clinically her weight was 24 kg (90 percentiles on CDC growth charts), her height was 124 cm (95th percentile on CDC growth charts),there was no advanced bone age in X Ray.
Excepting elevated estrogen levels other hematological and biochemical profiles includingthyroid function test were normal. The levels of gonadotropins were measured and found (FSH 3.18 mIU/mL, LH 0.8 mIU/mL), estradiol was 64 pg/ml.but initial ultrasonographic study of abdomen and pelvic ultrasonography showed no abnormality,brain MRI was also normal .After getting all this investigation, we came to conclusion the patientmay be suffered from constitutional precautious puberty.
Despite this She was regularly monitored, after 3 months her breasts began to grow rapidly becameas large as tanner stage of IV and she had 4 cm increasing in her height. Repeat of hormonal assay showed high levels of estradiol, 145pg/ml but tumor markers levels were normal, with a total BHCG of 0.1mlU/ml and an alpha-fetoprotein of 0.9IU/ml. At this time second thorough abdominal and pelvic ultrasonography workup revealed a round solid hypo echo and vascular structure mass measuring about 26.23mm in her left pelvic cavity .Surprisingly The pelvic MRI also detected, the lack of uterus and ovaries and short blind- end vagina, with oval shape structure measuring about 10 .6mmin right side of pelvic cavity. For this reason Theblood sample was sent to the molecular karyotyping laboratory for detection of chromosomal abnormality. This test confirmed the suspected diagnosis of - testicular feminization syndrome 46XY.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology