What is the most likely diagnosis? John is believed to be suffering from gigantism or acromegaly. Symptoms of acromegaly The term 'acromegaly' has its roots in the Greek terms for "enlargement" and "extremities"; these terms reflect one among the ailment's most commonly occurring signs of abnormally expanding feet and hands (Marieb & Hoehn, 2018a;...
What is the most likely diagnosis?
John is believed to be suffering from gigantism or acromegaly.
Symptoms of acromegaly
The term 'acromegaly' has its roots in the Greek terms for "enlargement" and "extremities"; these terms reflect one among the ailment's most commonly occurring signs of abnormally expanding feet and hands (Marieb & Hoehn, 2018a; 2018b). Swollen feet and hands typically manifest as an initial sign. Those suffering from the acromegaly notice changes in their shoe or ring sizes, especially shoe width. Slowly, changes in the bone begin to transform their facial features, with their lower jaw and brow protruding, spacing out of the teeth, and enlargement of their nasal bone (Colao et al., 2019).
Abnormal cartilage and bone growth frequently results in arthritis. Tissue thickening can trap nerves and result in the development of carpal tunnel syndrome (CTS) that in turn produces weakening and numbness of hands. Enlargement may also occur in the heart and other body organs.
Acromegaly patients also display the following symptoms (Colao et al., 2019);
· Joint aches
· Skin tags
· Thick, oily, and rough skin
· Enlarged nose, tongue and lips
· Tiredness and frailty
· A deeper voice because of vocal cords and sinus enlargement
· Vision impairment
· Headache
· Lower sex drive
· Sleep apnea- airway obstruction resulting in broken breathing when asleep
· Excessive skin odor and sweating
· Erectile dysfunction among men
· Occasional breast discharge and abnormal menstrual cycle among women
The likely diagnosis for John the hormonal disorder - acromegaly, commonly manifesting as enlargement of feet and hands. Those diagnosed with the condition find that their shoes and rings cease to fit like they used to. Acromegaly can lead to progressive facial transformations as well, including transformation in face shape, wider tooth spacing, protruding brow and lower jaw, thicker lips, and nose enlargement (Colao et al., 2019; Marieb & Hoehn, 2018a; 2018b). In John's case, the following signs were observed: continuous enlargement of hands, feet, cranium, lower jaw and nose.
The disorder normally impacts middle-aged persons (Colao et al., 2019), although it may be developed at all ages. John is 26 years of age, the most vulnerable age-group for the ailment. Among growing children, the presence of excess growth hormone may lead to gigantism, with patients displaying abnormal height increases and excessive bone growth.
Why?
Pituitary gland adenomas are generally believed to be responsible for acromegaly. The cause for adenomas is long-term growth hormone (GH) overproduction by a patient's pituitary gland, which produces numerous key hormones in charge of controlling bodily functions like development and growth, metabolism, and reproduction. However, hormones apparently never act in a straightforward manner but, rather, flow or "cascade" sequentially, impacting one another's production or secretion (Marieb & Hoehn, 2018a; 2018b). Hence, pituitary irradiation therapy has been recommended as a potential treatment for John (Melmed, 2016).
GH forms part of the hormonal cascade which controls physical body growth, commencing in the hypothalamus of the human brain. The hypothalamus produces pituitary regulatory hormones, including the GH-releasing hormone that stimulates GH production by the pituitary (Maffezzoni & Formenti, 2018). The GH's release into an individual's bloodstream stimulates liver production of the IGF-I (insulin-like growth factor I) hormone which results in development of tissue throughout the human body. High IGF-I levels successively indicate to the pituitary gland to decrease production of GH.
A second hormone - somatostatin - is produced by the hypothalamus for curbing GH production/secretion. Usually, levels of GH, GH-releasing hormone, IGF-I and somatostatin within the human body are controlled closely by one another, as well as through exercise, sleep, diet, blood glucose levels, and stress. If GH is continually produced independent of normal regulatory systems, the IGF-I level in the body continually increases and results in enlarged organs and bone overgrowth (Maffezzoni & Formenti, 2018; Melmed, 2016). Further, elevated IGF-I levels may result in fat (lipid) and sugar (glucose) metabolism changes, and may cause heart ailments, diabetes mellitus, and elevated blood pressure levels.
References
Colao, A., Grasso, L. F., Giustina, A., Melmed, S., Chanson, P., Pereira, A. M., & Pivonello, R. (2019). Acromegaly. Nature Reviews Disease Primers, 5(1), 20.
Maffezzoni, F., & Formenti, A. M. (2018). Acromegaly and bone. Minerva endocrinologica, 43(2), 168-182.
Marieb, E. & Hoehn, K. (2018a). Human Anatomy & Physiology (11th ed). Boston, MA: Pearson. ISBN: 9780134756363
Marieb, E. & Hoehn, K. (2018b). Study Guide: Human Anatomy & Physiology (11th ed). Boston, MA: Pearson. ISBN: 9780134760230
Melmed, S. (2016). New therapeutic agents for acromegaly. Nature Reviews Endocrinology, 12(2), 90.
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