13 citations
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June 2006 in “Pituitary” This article reports on a case where a 26-year-old woman with acromegaloidism was found to have X-tetrasomy, suggesting it should be considered in differential diagnoses due to its potential impact on growth-related genes.
6 citations
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January 2013 in “Case reports in endocrinology” This article reviews acromegaloid facial appearance syndrome and presents a case in a 57-year-old woman, emphasizing the need for more cases to understand its clinical features and inheritance patterns.
7 citations
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July 2004 in “Endocrine practice” This case report highlights how persistent hyperphosphatemia, albeit often overlooked, can precede clinical acromegaly symptoms in women, complicating diagnosis due to overlapping features with oral contraceptive use and polycystic ovary syndrome.
74 citations
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July 2010 in “The Journal of Clinical Endocrinology & Metabolism” This study found that gonadal dysfunction is very common in premenopausal women with acromegaly and may be caused by hyperprolactinemia, GH/IGF-I excess, or tumor effects.
66 citations
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August 1999 in “The Journal of Clinical Endocrinology & Metabolism” This study found that menstrual irregularity is common in women with acromegaly, with high GH levels, estrogen deficiency, and larger tumors correlating with more severe irregularity.
14 citations
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January 2018 in “Endocrine” This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.
23 citations
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June 2016 in “Journal of Veterinary Internal Medicine” This case series reports three cats diagnosed with hypersomatotropism due to GH-secreting pituitary adenomas without concurrent diabetes mellitus, highlighting the potential for underdiagnosis in non-diabetic cats.
October 2020 in “Clinical and Experimental Dermatology” Hair loss improved after removing pituitary tumor.
April 2020 in “Journal of the Endocrine Society” This study concluded that patients with type 3 acromegaly had higher comorbidities, greater disease activity, and increased mortality risk compared to those with type 1 and type 2 acromegaly, even after treatment adjustments.
9 citations
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September 2012 in “Clinical Endocrinology” This study found that over half of the patients experienced varying degrees of hair loss after acromegaly surgery, with female patients and those with severe postoperative growth hormone deficiency more commonly affected.
1 citations
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July 2024 in “Indian Journal of Case Reports” This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.
October 2024 in “Journal of the Endocrine Society” This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
July 2020 in “Endocrine practice” This case report details a 13-year-old boy with Cushing syndrome, where BIPSS identified the pituitary gland as the cortisol excess source and hormonal tests showed suppressed puberty markers.
17 citations
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May 2007 in “British Journal of Dermatology” This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.
September 2024 in “Medicine theory and practice” In a clinical case study, researchers identified adrenocortical adenoma as the cause of hyperandrogenism syndrome in a preschool-aged girl, following a comprehensive diagnostic process and successful surgical intervention to remove the tumor, leading to positive clinical improvements.
April 2020 in “Journal of the Endocrine Society” In this case report, successful management of a pituitary macroadenoma was achieved with thyroid hormone therapy, leading to reduced tumor size and improvement in symptoms like galactorrhea and headaches.
41 citations
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June 2003 in “Journal of The American Academy of Dermatology” This case report describes a patient who developed pseudoacromegaly from long-term use of high-dose minoxidil, marking the first such documented case.
February 2021 in “Journal of the Korean Ophthalmological Society” This study examined a 7-year-old girl with trichomegaly of the eyelashes, showing no significant underlying or observable cause, suggesting a spontaneous occurrence.
October 2025 in “Journal of the Endocrine Society” This case report illustrates a rare instance of mixed germ cell tumor in the pituitary with hyperandrogenism, emphasizing the importance of thorough examination and hormone evaluation in identifying hormonal dysfunctions.
April 2020 in “BMC endocrine disorders” This case report describes a 65-year-old woman with childhood-onset growth hormone deficiency who developed panhypopituitarism, including late-onset secondary hypoadrenocorticism, affecting her respiratory and renal function.
April 2020 in “Journal of the Endocrine Society” This case report describes a rare occurrence of giant bilateral adrenal myelolipomas in a 28-year-old female with CAH, emphasizing that large, hormonally active, or painful myelolipomas should be surgically removed.
2 citations
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July 2019 in “Indian dermatology online journal” This report documents a rare case of familial eyelash trichomegaly and synophrys in three siblings, with one sister also having loose anagen hair syndrome, an unreported association.
6 citations
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October 2015 in “Clinical Case Reports” This study highlights that scalp hair loss is an underreported side effect of somatostatin analogs therapy, potentially linked to decreased GH/IGF-1 levels or a direct drug effect.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.
January 2011 in “Revista Portuguesa de Endocrinologia Diabetes e Metabolismo” This article presents a case of congenital adrenal hyperplasia and myelolipoma in a 56-year-old woman, describing her symptoms and characteristics without offering new clinical results.
5 citations
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October 2003 in “PubMed” This case report describes a 30-year-old male with a late diagnosis of Kallmann's syndrome, highlighting the necessity of hormonal therapy to reduce the risk of osteoporosis and bone fractures despite the patient's acceptance of his physical appearance.
In this case report, a 10-year-old girl with an adrenal adenoma experienced symptoms like hirsutism and clitoromegaly; after surgical removal of the tumor, her symptoms and biochemical abnormalities resolved over several months.
18 citations
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December 2006 in “Clinical dysmorphology” This article reviews the case of a 2-year-old boy with rhombencephalosynapsis and considers its potential links to Gomez–López-Hernández syndrome, suggesting further research into its genetic causes; no new clinical results are reported.
24 citations
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May 1951 in “Endocrinology” This study describes the effects of adrenocorticotropic hormone injections in rats, specifically detailing their stunted body growth and changes in visceral proportions and hematology.