Publications

Authors:

Morandi, Grazia; Maines, Evelina; Giulia, Rodella; Doro, Francesco; Cavarzere, Paolo; Monti, Elena; Gaudino, Rossella; Antoniazzi, Franco

Title:

Precociuos Pubarche in a girl with a 48,xxxx karyotype

Year:

2012

Type of item:

Abstract in rivista

Tipologia ANVUR:

Abstract su rivista

Language:

Inglese

Keyword:

48; XXXX; Precociuos pubarche

Short description of contents:

ntroduction: Only around 40 cases of 48,XXXX have been reported in the literature so far. Their phenotypes are very heterogeneous, but the number of X chromosome seems to be fundamental for normal growth, ovarian function and mental development. Case Report: A 8,4 years old girl with a 48,XXXX karyotype came to our Clinic for pubic hair appeared 8 months before. She had an height >3SD, a weight >3SD, a prominent frontal eminences, exophthalm, low-set ears and a flat nasal bridge with a shield shaped thorax, joint laxity and valgism of the knee and a mental delay. Her bone age (BA) advanced fastly: from 8 to 9 years and 9 months after less than a year. ACTH test resulted negative, the Gonadotrophin-releasing hormone analogue (GnRHa) test showed basal FSH and LH levels of 13,3 and 1,3 U/l respectively and stimulated FSH and LH levels of 91,6 and 74,4 U/l. Estradiol was 21,9 pg/L. At the pelvic ultrasound the uterus longitudinal diameter was of 33 mm. RMN was not performed because the patient’s parents refusal. For the pubertal response to GnRHa test, the BA acceleration and the mental retardation, we treated her as a central precocious puberty (CPP) with the complete arrest of puberty progression. GnRHa treatment was suspended at 12 years of BA and after 6 we performed a new GnRHa test , which revealed a clear picture of hypergonadotropic hypogonadism (LH 14,8 U/L before and 173,0 U/L after stimulus; FSH 40,7 U/L before and 110,0 U/L after stimulus, with levels of estradiol < 0,20 pg/ml). Conclusion: Patients with more or less X chromosome require a right follow-up as they can show gonadal dysgenesis, with just a FSH increased alone, later than Turner syndrome. An unsolved question remains: “Have the pubarche and the precocious activation of hypothalamic-pituitary axis initially hidden the hypergonadotropic hypogonadism?”

Product ID:

85082

Handle IRIS:

11562/877987

Deposited On:

January 23, 2015

Last Modified:

November 4, 2022

Bibliographic citation:

Morandi, Grazia; Maines, Evelina; Giulia, Rodella; Doro, Francesco; Cavarzere, Paolo; Monti, Elena; Gaudino, Rossella; Antoniazzi, Franco, Precociuos Pubarche in a girl with a 48,xxxx karyotype 2012

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