Faculty Opinions recommendation of Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center.

Author(s):  
Günter Stalla ◽  
Ulrich Renner
2006 ◽  
Vol 22 (12) ◽  
pp. 704-709 ◽  
Author(s):  
Neoklis A. Georgopoulos ◽  
Ilias Katsikis ◽  
Petros Giamalis ◽  
Vasiliki Koika ◽  
George Adonakis ◽  
...  

2019 ◽  
Vol 20 (8) ◽  
pp. 1875 ◽  
Author(s):  
Laura Penta ◽  
Carla Bizzarri ◽  
Michela Panichi ◽  
Antonio Novelli ◽  
Francesca Romana Lepri ◽  
...  

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.


2020 ◽  
Vol 6 (5) ◽  
pp. e262-e264
Author(s):  
Cassandra Hawco ◽  
Robyn L. Houlden

Objective: Treatment of growth hormone (GH) deficiency with GH extracts from human pituitary glands was introduced by Dr. Maurice Raben at Tufts New England Medical Center in 1956. We report long term follow-up of one of the first patients treated with GH. Methods: Clinical, radiographic, and genetic data are presented. Results: A 78-year-old man presented for follow-up. He was one of the first patients to receive GH therapy from Raben in 1958. Growth was reported as normal until age 3 and then decelerated. At age 17 years, he was 129.5 cm with absent sexual development and bone age of 7 years. Treatment was initiated with desiccated thyroid and cortisone acetate for 8 months. Human GH extract was then initiated with 2 mg 3 times/week for 2 years, then 3 mg 3 times/week for 6 months, resulting in a final height of 168.9 cm. Testosterone intramuscularly every 2 weeks was added with sexual maturation over 2 years. He remained on testosterone injections until the age of 40 years, and on transdermal testosterone until the age of 50 years. At age 27 years, he was treated by Raben with human chorionic gonadotropin and menotropins for spermatogenesis restoration with successful conception by his wife. At age 78 years, pituitary MRI revealed a tiny amount of pituitary tissue within normal-sized sella turcica with absent pituitary infundibulum. A combined pituitary hormone deficiency genetic panel did not reveal any mutations. Conclusion: Sixty-two years later, the patient remains in good health and grateful to a pioneer in Endocrinology for groundbreaking therapy of short stature. The cause of his hypopituitarism remains unknown.


2020 ◽  
Vol 33 (3) ◽  
pp. 443-447 ◽  
Author(s):  
Elizabeth T. Rosolowsky ◽  
Robert Stein ◽  
Seth D. Marks ◽  
Norma Leonard

AbstractWe describe four phenotypically different brothers who share the same microduplication of Xq27.1, which contains the SOX3 gene. SOX3 mutations have been associated with growth hormone deficiency, variable degrees of additional pituitary hormone deficiencies, and mental retardation. SOX3 also appears to play an important role in pharyngeal arch segmentation that gives rise to craniofacial structures. While these four brothers have inherited the same mutation, they manifest a spectrum of phenotypes, ranging from complete, multiple pituitary hormone deficiencies to no apparent pituitary hormone deficiency with or without craniopharyngeal/facial dysmorphisms. We look to the literature to provide putative explanations for the variable expression of the brothers’ shared SOX3 mutation.


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