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Case Report

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

by
Laura Penta
1,
Carla Bizzarri
2,
Michela Panichi
3,
Antonio Novelli
4,
Francesca Romana Lepri
4,
Marco Cappa
2 and
Susanna Esposito
1,*
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.
Int. J. Mol. Sci. 2019, 20(8), 1875; https://doi.org/10.3390/ijms20081875
Submission 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.
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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MDPI and ACS Style

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. https://doi.org/10.3390/ijms20081875

AMA Style

Penta L, Bizzarri C, Panichi M, Novelli A, Lepri FR, Cappa M, Esposito S. Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary. International Journal of Molecular Sciences. 2019; 20(8):1875. https://doi.org/10.3390/ijms20081875

Chicago/Turabian Style

Penta, Laura, Carla Bizzarri, Michela Panichi, Antonio Novelli, Francesca Romana Lepri, Marco Cappa, and Susanna Esposito. 2019. "Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary" International Journal of Molecular Sciences 20, no. 8: 1875. https://doi.org/10.3390/ijms20081875

APA Style

Penta, L., Bizzarri, C., Panichi, M., Novelli, A., Lepri, F. R., Cappa, M., & Esposito, S. (2019). Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary. International Journal of Molecular Sciences, 20(8), 1875. https://doi.org/10.3390/ijms20081875

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