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Unbound Medicine.
(Acromegaly & Gigantism)
442 results
  • Two Unusual Cases of Pituitary Tumors Presenting with Pediatric Acromegaly. [Case Reports]
    Cureus. 2022 Nov; 14(11):e31604.Gurnurkar S, Patel U, … Chegondi M
  • Gigantism and acromegaly are most commonly caused by a growth hormone (GH)-secreting pituitary adenoma. Pediatric cases are diagnostically and therapeutically challenging due to their insidious nature. This article presents two adolescent females who were referred to the endocrinology clinic primarily for the evaluation of menstrual disorders rather than for concerns about GH excess. Patient one …
  • Phenotypic Variability in a Family with Carney Complex Accompanied by a Novel Mutation Involving PRKAR1A. [Case Reports]
    Tohoku J Exp Med. 2022 Jul 27; 257(4):337-345.Kubo H, Tsurutani Y, … Saito J
  • Carney complex is a rare, autosomal dominant disease accompanied by multiple endocrine neoplastic syndromes. Mutations in the PRKAR1A gene have recently been reported as a cause of Carney complex, but genotype-phenotype correlations vary widely. A 15-year-old Japanese man (Case 1) with short stature visited our hospital with suspected Cushing's syndrome. Biochemical investigations suggested corti…
  • Endotext: Gigantism [BOOK]
    Endotext., Inc.: South Dartmouth (MA)Feingold KR, Anawalt B, … Wilson DPEugster EBOOK
  • Gigantism is a non-specific term that denotes excessive growth in a pediatric patient. This may rarely result from an over production of growth hormone (GH), which is often termed pituitary gigantism, or it may arise from an overgrowth syndrome. Pituitary gigantism can present as early as during infancy or not until adolescence and may be congenital or acquired. Likewise, it may occur as a sporad…
  • Berardinelli Seip Syndrome: A rare case report. [Case Reports]
    J Pak Med Assoc. 2022 May; 72(5):969-971.Ashraf S, Masood S, … Rashid J
  • Berardinelli Seip Congenital Lipodystrophy (BSCL) or Congenital Generalized Lipodystrophy (CGL) is one of the four subgroups of lipodystrophy syndrome which is characterized by varying degrees of loss of adipose mass in the body. It is an extremely rare autosomal recessive disorder and commonly reported clinical presentations include muscular hypertrophy, gigantism, hepatomegaly, impaired glucose…
  • The Internal Cranial Anatomy of a Female With Endocrine Disorders From a Mediaeval Population. [Journal Article]
    Front Endocrinol (Lausanne). 2022; 13:862047.Kubicka AM, Charlier P, Balzeau A
  • Gigantism and acromegaly have been observed in past populations; however, analyses usually focus on the morphological features of the post-cranial skeleton. The aim of this study is to characterize the internal anatomical features of the skull (brain endocast anatomy and asymmetry, frontal pneumatization, cranial thickness, sella turcica size) of an adult individual from the 11-14th centuries wit…
  • Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess. [Journal Article]
    J Clin Med. 2022 Apr 13; 11(8)Hannah-Shmouni F, Trivellin G, … Stratakis CA
  • Overgrowth due to growth hormone (GH) excess affects approximately 10% of patients with neurofibromatosis type 1 (NF1) and optic pathway glioma (OPG). Our aim is to describe the clinical, biochemical, pathological, and genetic features of GH excess in a retrospective case series of 10 children and adults with NF1 referred to a tertiary care clinical research center. Six children (median age = 4 y…
  • Endotext: Surgical Treatment of Pituitary Adenomas [BOOK]
    Endotext., Inc.: South Dartmouth (MA)Feingold KR, Anawalt B, … Wilson DPJane JA, Catalino MP, … Laws ERBOOK
  • The overwhelming majority of pituitary adenomas are benign and present either with characteristic syndromes of excess hormone secretion or secondary to mass effect by the growing tumor. The common hypersecretory syndromes include Cushing’s disease, acromegaly/gigantism, and hyperprolactinemia. Local mass effects on the pituitary can cause varying degrees of hypopituitarism. As the tumor grows bey…
  • Successful treatment of pituitary gigantism. [Case Reports]
    BMJ Case Rep. 2021 Dec 31; 14(12)Cunha C, Saraiva C, … Duarte JS
  • Pituitary gigantism is extremely rare, resulting from excessive secretion of growth hormone (GH) before fusion of epiphysial growth plates. We report a case of a 13-year-old boy, who presented with increased statural growth and headaches since the age of 10 years. On physical examination, his height was 180.7 cm (+3.3 SD) and Tanner stage V. Investigation revealed increased levels of serum age-ad…
  • StatPearls: Gigantism And Acromegaly [BOOK]
    StatPearls. StatPearls Publishing: Treasure Island (FL)BelloManuel O.MOUniversity of Mississippi Medical CenterGarlaVishnu V.VVUniversity of Mississippi Medical CenterBOOK
  • Acromegaly and gigantism are disorders of growth hormone hypersecretion. The most common cause is a growth hormone (GH) secreting adenoma in the pituitary gland. Gigantism occurs when growth hormone hypersecretion occurs before the fusion of the long bone epiphysis and is characterized by tall stature. Acromegaly occurs when GH hypersecretion occurs after the fusion of the epiphysis leading to la…
  • Approach to the Patient With Pseudoacromegaly. [Journal Article]
    J Clin Endocrinol Metab. 2022 05 17; 107(6):1767-1788.Marques P, Korbonits M
  • Pseudoacromegaly encompasses a heterogeneous group of conditions in which patients have clinical features of acromegaly or gigantism, but no excess of GH or IGF-1. Acromegaloid physical features or accelerated growth in a patient may prompt referral to endocrinologists. Because pseudoacromegaly conditions are rare and heterogeneous, often with overlapping clinical features, the underlying diagnos…
  • Dante Alighieri (1265-1321): an "infernal" endocrinological observation. [Review]
    Hormones (Athens). 2022 Mar; 21(1):185-187.Mandarano P, Masciangelo G, Armocida E
  • The year 2021 marks the 700th anniversary of Dante's death. Is it appropriate to celebrate this anniversary in a journal of endocrinology? The answer is yes-the motivation for this being found in the giants that Dante, in his Divine Comedy, places around the well that divides Circle 8 from Circle 9 of Hell. The "Supreme Poet" describes one of the giants (Nimrod, a Biblical character) as having a …
  • GHRH secretion from a pancreatic neuroendocrine tumor causing gigantism in a patient with MEN1. [Journal Article]
    Endocrinol Diabetes Metab Case Rep. 2021 Jun 01; 2021Srirangam Nadhamuni V, Iacovazzo D, … Korbonits M
  • CONCLUSIONS: A male patient with a germline mutation in MEN1 presented at the age of 18 with classical features of gigantism. Previously, he had undergone resection of an insulin-secreting pancreatic neuroendocrine tumour (pNET) at the age of 10 years and had subtotal parathyroidectomy due to primary hyperparathyroidism at the age of 15 years. He was found to have significantly elevated serum IGF-1, GH, GHRH and calcitonin levels. Pituitary MRI showed an overall bulky gland with a 3 mm hypoechoic area. Abdominal MRI showed a 27 mm mass in the head of the pancreas and a 6 mm lesion in the tail. Lanreotide-Autogel 120 mg/month reduced GHRH by 45% and IGF-1 by 20%. Following pancreaticoduodenectomy, four NETs were identified with positive GHRH and calcitonin staining and Ki-67 index of 2% in the largest lesion. The pancreas tail lesion was not removed. Post-operatively, GHRH and calcitonin levels were undetectable, IGF-1 levels normalised and GH suppressed normally on glucose challenge. Post-operative fasting glucose and HbA1c levels have remained normal at the last check-up. While adolescent-onset cases of GHRH-secreting pNETs have been described, to the best of our knowledge, this is the first reported case of ectopic GHRH in a paediatric setting leading to gigantism in a patient with MEN1. Our case highlights the importance of distinguishing between pituitary and ectopic causes of gigantism, especially in the setting of MEN1, where paediatric somatotroph adenomas causing gigantism are extremely rare.It is important to diagnose gigantism and its underlying cause (pituitary vs ectopic) early in order to prevent further growth and avoid unnecessary pituitary surgery. The most common primary tumour sites in ectopic acromegaly include the lung (53%) and the pancreas (34%) (1): 76% of patients with a pNET secreting GHRH showed a MEN1 mutation (1). Plasma GHRH testing is readily available in international laboratories and can be a useful diagnostic tool in distinguishing between pituitary acromegaly mediated by GH and ectopic acromegaly mediated by GHRH. Positive GHRH immunostaining in the NET tissue confirms the diagnosis. Distinguishing between pituitary (somatotroph) hyperplasia secondary to ectopic GHRH and pituitary adenoma is difficult and requires specialist neuroradiology input and consideration, especially in the MEN1 setting. It is important to note that the vast majority of GHRH-secreting tumours (lung, pancreas, phaeochromocytoma) are expected to be visible on cross-sectional imaging (median diameter 55 mm) (1). Therefore, we suggest that a chest X-ray and an abdominal ultrasound checking the adrenal glands and the pancreas should be included in the routine work-up of newly diagnosed acromegaly patients.
  • An Update on Pituitary Neuroendocrine Tumors Leading to Acromegaly and Gigantism. [Review]
    J Clin Med. 2021 May 22; 10(11)Asa SL, Ezzat S
  • An excess of growth hormone (GH) results in accelerated growth and in childhood, the clinical manifestation is gigantism. When GH excess has its onset after epiphyseal fusion at puberty, the overgrowth of soft tissue and bone results in acromegaly. Persistent GH excess in gigantism also causes acromegalic features that become evident in the adult years. The causes of GH excess are primarily lesio…
  • Status epilepticus and diabetes ketoacidosis: uncommon clinical presentations of acromegaly. [Journal Article]
    Endocrinol Diabetes Metab Case Rep. 2021 Apr 01; 2021Chamba NG, Amour AA, … Howlett WP
  • CONCLUSIONS: Acromegaly is a rare disease caused by hypersecretion of the growth hormone (GH). Most cases are caused by either pituitary microadenoma or macroadenoma. The GH producing tumors present with clinical manifestations of acromegaly due to excessive GH secretion or symptoms resulting from mass effects of the enlarging tumor. The physical changes are usually slow and, therefore, recognition of the disease is delayed. These adenomas are never malignant but can have significant morbidity and mortality. A subgroup of patients with acromegaly present with severe hyperglycemia resulting in diabetic ketoacidosis (DKA) which requires insulin. Rarely are pituitary tumors responsible for generalized convulsions except when they are too large. We hereby present two cases, the first is that of a 26-year-old female who presented with new onset status epilepticus, DKA with a 1-year history of diabetes mellitus (DM). On examination, she had clinical features of acromegaly. The second case is that of a 34-year-old female who presented with new onset status epilepticus, hyperglycemia with a history of recently diagnosed DM, and features of gigantism. In both cases, their diagnosis was confirmed by elevated serum GH and later by elevated insulin-like growth factor type 1 levels, and CT of the head demonstrating large pituitary macroadenoma. The importance of clinical history and examination, as well as investigations is vital in the recognition of acromegaly. The prognosis of acromegalic patients depends on early clinical recognition and tumor size reduction by either medical or surgical therapy.Conditions such as status epilepticus and DKA may be clinical presentations in patients presenting with acromegaly. Seizures are rare in people with pituitary adenoma and typically occur when the tumor invades the suprasellar area due to mass effect on the brain. This article shows how best we were able to manage the acromegaly complications in a low resource setting. Hyperprolactinemia in acromegaly may be due to disruption of the normal dopaminergic inhibition of prolactin secretion due to mass effect of the macroadenoma, and around 25% of GH-secreting adenomas co-secrete prolactin.
  • Towards an Earlier Diagnosis of Acromegaly and Gigantism. [Review]
    J Clin Med. 2021 Mar 26; 10(7)Sisco J, van der Lely AJ
  • Acromegaly is a rare disease and the clinical features of acromegaly develop insidiously; its diagnosis is often significantly delayed. Therefore, earlier diagnosis will improve the quality of life of the patient and reduce the need for other therapies to control the initial and ongoing damage that acromegaly presents. In this chapter, we describe the view of the patient and the clinician on the …
  • Genetics of Acromegaly and Gigantism. [Review]
    J Clin Med. 2021 Mar 29; 10(7)Bogusławska A, Korbonits M
  • Growth hormone (GH)-secreting pituitary tumours represent the most genetically determined pituitary tumour type. This is true both for germline and somatic mutations. Germline mutations occur in several known genes (AIP, PRKAR1A, GPR101, GNAS, MEN1, CDKN1B, SDHx, MAX) as well as familial cases with currently unknown genes, while somatic mutations in GNAS are present in up to 40% of tumours. If th…
  • Genetic and Epigenetic Causes of Pituitary Adenomas. [Review]
    Front Endocrinol (Lausanne). 2020; 11:596554.Chang M, Yang C, … Wang R
  • Pituitary adenomas (PAs) can be classified as non-secreting adenomas, somatotroph adenomas, corticotroph adenomas, lactotroph adenomas, and thyrotroph adenomas. Substantial advances have been made in our knowledge of the pathobiology of PAs. To obtain a comprehensive understanding of the molecular biological characteristics of different types of PAs, we reviewed the important advances that have b…
  • Pseudoacromegaly Associated with Non-Functioning Pituitary Adenoma. [Journal Article]
    Eur J Case Rep Intern Med. 2020; 7(12):001950.Alotaibi A, Habib A, … Alzahrani F
  • CONCLUSIONS: There are several conditions that present with clinical aspects of acromegaly or gigantism but without growth hormone (GH) excess. Such cases are described as "pseudoacromegaly" or "acromegaloidism".In cases of excessive soft tissue growth with normal GH levels, other growth promotors (for example, thyroid hormone, sex hormones, insulin and others) should be taken into consideration.Biochemical confirmation of GH excess in patients presenting with clinical features of acromegaly and pituitary adenoma should always be considered to avoid unnecessary surgeries.
  • A legendary sumo wrestler with gigantism or acromegaly? The case of Ikezuki Geitazaemon (1827-1850). [Historical Article]
    Med Hypotheses. 2020 Nov; 144:110174.Takada K, Sasano M, Hayakawa S
  • Sumo is a traditional Japanese full-contact wrestling sport. Among sumo wrestlers, Ikezuki Geitazaemon (1827-1850) was one of the most famous wrestlers due to his large body size. Here, we hypothesize that the legendary Japanese sumo wrestler could have had gigantism or acromegaly, which are disorders caused by the hypersecretion of growth hormone (GH). GH-secreting pituitary adenoma leads to the…
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