Precocious puberty in a patient with indicanuria.
A 7-5/12 year-old girl, who was followed-up after diagnosis of indicanuria, presented with symptoms of bilateral breast enlargement. Her breast development was at Tanner stage II. No pubic or axillary hair was observed. Pelvic ultrasonography revealed multiple follicles on both ovaries. Basic endocrinological evaluation and cranial magnetic resonance imaging (MRI) were normal. The diagnosis of precocious puberty was established with respect to the pubertal response to GnRH stimulation test. Although precocious puberty has been reported associated with some metabolic diseases, this is the first description in a patient with indicanuria. The question of whether precocious puberty in our patient with indicanuria is a coincidence or whether it is related to metabolic changes activating the hypothalamo-pituitary-gonadal axis remains open.
Department of Pediatric Metabolism, University of Dokuz Eylül, Izmir, Turkey.
B
B
Büyükgebiz
A
A
Uğuz
E
E
Böber
A
A
Büyükgebiz
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000652:urine*; D002648:Child; D005260:Female; D007987:Gonadotropin-Releasing Hormone; D006801:Humans; D007200:Indican / Q000652:urine*; D007986:Luteinizing Hormone / Q000097:blood; D011629:Puberty, Precocious / Q000150:complications* / Q000188:drug therapy; D017329:Triptorelin Pamoate / Q000627:therapeutic use; D014364:Tryptophan / Q000378:metabolism*
D017329:Triptorelin Pamoate; D007987:Gonadotropin-Releasing Hormone; D014364:Tryptophan; D007986:Luteinizing Hormone; D007200:Indican