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Int. J. Mol. Sci. 2019, 20(8), 1875; https://doi.org/10.3390/ijms20081875

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary

1
Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Lucio Severi 1, 06132 Perugia, Italy
2
Unit of Endocrinology and Diabetes, IRCCS Bambino Gesù Children’s Hospital, Piazza Sant’Onofrio 4, 00165 Rome, Italy
3
Unit of Pediatrics, Città di Castello Hospital, Via L. Angelini, 10, 06012 Città di Castello, Italy
4
Laboratory of Medical Genetics, IRCCS Bambino Gesù Children Hospital and Research Institute, Piazza Sant’Onofrio 4, 00165 Rome, Italy
*
Author to whom correspondence should be addressed.
Received: 6 March 2019 / Revised: 10 April 2019 / Accepted: 11 April 2019 / Published: 16 April 2019
(This article belongs to the Section Molecular Endocrinology and Metabolism)
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Abstract

Growth hormone deficiency (GHD) can be present from the neonatal period to adulthood and can be the result of congenital or acquired insults. In addition, GHD can be classified into two types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). CPHD is a disorder characterized by impaired production of two or more anterior and/or posterior pituitary hormones. Many genes implicated in CPHD remain to be identified. Better genetic characterization will provide more information about the disorder and result in important genetic counselling because a number of patients with hypopituitarism represent familial cases. To date, PROP1 mutations represent the most common known genetic cause of CPHD both in sporadic and familial cases. We report a novel mutation in the PROP1 gene in an infant with CPHD and an enlarged pituitary gland. Close long-term follow-up will reveal other possible hormonal defects and pituitary involution. View Full-Text
Keywords: combined pituitary hormone deficiency; growth hormone deficiency; isolated growth hormone deficiency; pituitary gland; PROP1 combined pituitary hormone deficiency; growth hormone deficiency; isolated growth hormone deficiency; pituitary gland; PROP1
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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Penta, L.; Bizzarri, C.; Panichi, M.; Novelli, A.; Lepri, F.R.; Cappa, M.; Esposito, S. Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary. Int. J. Mol. Sci. 2019, 20, 1875.

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