ESPE Abstracts

We present the cases of a 3 yo girl diagnosed with precoccious puberty, with a personal history of premature telarchy, genital hair development and vaginal blood discharge at 1yo 2mo, currently in treatment with GnRH agonist, and the case of her younger sister, aged 1 yo, who also presented with premature telarchy. They have 2 older siblings, both of them are clinically healthy boys. Their mother and paternal aunt had normal pubertal development. No other history from females of paternal side is known. In physical examination at the initial presentation, the older sister, aged 2yo 6mo, had 20 kg, 110 cm, situated on the 65th percentile of BMI, bilateral flat feet, genu varum, multiple pigmentary nevi, Tanner stage B4P3. According to Romanian growth charts, height SD score was +4.9 SD and -1.9 SD adjusted for bone age (nondominant hand wrist X-ray showed 6yo 6mo aspect). Paraclinic examination showed basal LH=9.30mUI/ml, Estradiol=38.68pg/ml with normal levels of Testosterone, 17OH-progesterone, DHEA-S, Androstendione, Prolactin. McCune-Albright syndrome was suspected because of the association between leg abnormalities and precoccious puberty. Because the genetic mutation causing this syndrome produces stimulation of endocrine glands, the patient was screened for other endocrinopathies. Hormonal samples and tests showed that thyroid function, adrenal glands and somatotrophic axis were normal. Pelvic US showed enlarged uterus of 3.7/1.7 cm, presence of endometrial layer, follicular aspect of the ovaries. Hypothalamic-hypophyseal MRI excluded a tumor, and GnRH agonist treatment was initiated. The patient is currently responding properly. The younger sibling, aged 1yo 2mo at the first evaluation, had breast development at the age of 1 yo. At physical examination patient had 83 cm, which corresponds to +2.03 SD, and -3.15 SD adjusted for bone age of 3 yo, 10,8 kg, 87th percentile of BMI, Tanner stage B3P1. Hormonal samples showed basal LH=0.13UI/l, FSH=5.09UI/l, Estradiol<5pg/ml, with normal 17OH-progesterone, DHEA-S, Androstendione, Prolactin, IGF1, thyroid and adrenal function. The pelvic US showed an uterus of 2,28 /1,3 cm, left ovary of 1,39/0,87 cm. No therapeutical approach was initiated for this patient yet. Further investigations will follow, as the family is schedueled for genetic counselling because the main suspicion of etiology in this cases is a genetic disorder. There are multiple causes of precoccious puberty, either central, or peripheral, idiopathic or organic, but the particularity of this two cases is the similar pattern of manifestations in both sisters manifested at a very young age, with unaffected mother.