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Fulltext Xanthomatous Hypophysitis Presenting in an Adolescent Girl: A Long-Term Follow-Up of a Rare Case and Review of the Literature

Wong JSL, Nasruddin AB, Selveindran NM, Latif KA, Kassim F, Nair SB, et al.

AACE Clin Case Rep, 2021 02 01;7(3):220-225.
PMID: 34095493 DOI: 10.1016/j.aace.2021.01.008

Objective: Primary hypophysitis refers to the isolated inflammation of the pituitary gland not associated with other secondary causes. Among its histopathologic subtypes, xanthomatous is the rarest.
Methods: We describe a 22-year-old woman with xanthomatous hypophysitis (XH), its clinical progression over 8 years as well as the treatment effects of prednisolone and azathioprine. Our patient was first referred for severe short stature and delayed puberty at the age of 14 years.
Results: Investigations revealed multiple pituitary deficiencies. Magnetic resonance imaging showed a pituitary mass whereby a partial resection was performed. A full resection was not feasible due to the location of the mass. The histopathologic analysis of the tissue was consistent with XH. The results of secondary workout for neoplasm, infection, autoimmune, and inflammatory disorders were negative. After surgery, a progressive enlargement of the mass was observed. Two courses of prednisolone were administered with a significant reduction in the mass size. Azathioprine was added due to the unsustained effects of prednisolone when tapered off and the concern of steroid toxicity with continued use. No further increase in the mass size was noted after 6 months on azathioprine.
Conclusion: Glucocorticoid and immunotherapy are treatment options for XH; however, more cases are needed to better understand its pathogenesis and clinical progression.

Matched MeSH terms: Puberty, Delayed
Fulltext Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report

Lee YL, Toh L, Yap F

J ASEAN Fed Endocr Soc, 2020;35(1):122-124.
PMID: 33442180 DOI: 10.15605/jafes.035.01.21

A 26-year-old female presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome. This was confirmed by a heterogenous de novo pathogenic variant c.6955C >T:p.(Arg2319Cys) detected in the CHD7 gene. Detailed assessment, including olfaction, ophthalmic and auditory examination should be part of the evaluation framework in children with delayed growth and puberty.

Matched MeSH terms: Puberty, Delayed
Fulltext Glycogenic hepatopathy in children with poorly controlled type 1 diabetes mellitus

Abu NA, Lim CB, Nor NSM

Clin Pediatr Endocrinol, 2021;30(2):93-97.
PMID: 33867669 DOI: 10.1297/cpe.30.93

Mauriac syndrome is a rare and underdiagnosed complication of type 1 diabetes mellitus (T1DM). It is characterized by growth retardation, delayed puberty, Cushingoid features, hepatomegaly, and increased transaminase levels. The term glycogenic hepatopathy has been used to describe patients with poorly controlled T1DM and glycogen overload in the hepatocytes but without all the features of Mauriac syndrome. Although rare, glycogenic hepatopathy is reported to be the main cause of hepatomegaly in young patients with T1DM. We report two cases of glycogenic hepatopathy in children with poorly controlled T1DM. Both children had hepatomegaly, elevated liver enzyme levels, and elevated lactate levels. A liver biopsy confirmed the diagnosis of glycogenic hepatopathy in both patients. In conclusion, hepatomegaly with elevated liver enzymes, negative infective and metabolic screenings and persistently elevated plasma lactate levels should raise the suspicion of glycogenic hepatopathy in poorly controlled T1DM. Early diagnosis and improvement in glycemic control are the mainstays of treatment, which can prevent long-term complications.

Matched MeSH terms: Puberty, Delayed
Fulltext Can Brain Natriuretic Peptides and Osteoprotegerin Serve As Biochemical Markers for the Detection of Aortic Pathology in Children and Adolescents with Turner Syndrome?

Mavinkurve M, O'Gorman CS

Front Endocrinol (Lausanne), 2017;8:142.
PMID: 28725213 DOI: 10.3389/fendo.2017.00142

Turner syndrome (TS) is a chromosomal disorder that affects 1:2,000 females. It results from either the complete or partial loss of the X chromosome as well as other aberrations. Clinical features of TS include short stature, delayed puberty, and congenital cardiac malformations. TS children also have an increased prevalence of cardiometabolic risk factors, which predisposes them to complications like coronary artery disease, cerebrovascular-related deaths, and aortic dissection. Early cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, are recommended to detect underlying aortic pathology. However, these modalities are limited by cost, accessibility, and are operator dependent. In view of these shortcomings, alternative methods, like vascular biomarkers, are currently being explored. There are only a few studies that have examined the relationship between B-type natriuretic peptide (BNP), N-terminal pro BNP (NT pro-BNP), and osteoprotegerin (OPG) and aortic disease in TS, and thus the data are only in proof-of-concept stages. Further meticulous longitudinal studies are required before BNP, NT pro-BNP, and OPG are used as vascular biomarkers for the detection of aortic disease in childhood and adolescent TS.

Matched MeSH terms: Puberty, Delayed