ESPE Abstracts (2016) 86 P-P2-396

Hypogonadotropic Hypogonadism in a Girl with 2p11.2-2q12.1 Duplication

Martina Bianconi, Perla Scalini, Ilaria Maccora, Maurizio de Martino, Paolo Megna & Stefano Stagi

Health Sciences Department, University of Florence, Anna Meyer Children’s University Hospital, Florence, Italy

Background: Patients with chromosome 2 pericentromeric duplication are rarely reported in literature.

Objective and hypotheses: To describe a young girl with a congenital malformations syndrome, hypogonadotropic hypogonadism and impaired bone quality associated with a chromosome 2 pericentromeric duplication.

Results: The proposita was born at 37th weeks of gestation from a twin pregnancy with a cesarean delivery presenting low birth weight for gestational age. She showed an aneurysm of the Galeno vein, a delayed psychomotor development, hiatal hernia, vernal keratoconjunctivitis and paroxysmal supraventricular tachycardia. The proposita also showed many facial and body dysmorphisms and a severe growth failure. The molecular karyotyping performed by array-CGH highlighted a chromosome 2-pericentromeric duplication of approximately 14 Mbp (2p11.2–2q12.1). At the age of 17 years and 9 month, she was evaluated for delayed puberty and primary amenorrhea. Tanner stage was B3 PH4 AH3. GnRH stimulation test revealed hypogonadotropic hypogonadism (LH peak 5.67 mIU/ml). Oestrogen level was very low, as well as inhibin B and anti-Mullerian factor levels. The pelvic ultrasound showed normal uterus and ovaries with reduced volume. Furthermore, blood tests showed vitamin D deficiency, a low total and ionized calcium levels and a high level of parathyroid hormone. The ultrasound bone densitometry revealed a very low bone mineral status (Z-score corrected for height =−3.8 SDS). The patient have spontaneous menarche at 18 years with secondary amenorrhea.

Conclusion: We suggest that this may be a new congenital syndrome associated with hypogonadotropic hypogonadism. The role of specific genes associated with 2p11.2–2q12.1 duplication must to be evaluated.

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