Hypopituitarism Presenting as Adrenal Insufficiency and Hypothyroidism in a Patient with Wilson's Disease: a Case Report

Lee, Hae Won; Kang, Jin Du; Yeo, Chang-Woo; Yoon, Sung Woon; Lee, Kwang Jae; Choi, Mun Ki

doi:10.3346/jkms.2016.31.8.1345

Cited by 4 publications

(2 citation statements)

References 11 publications

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“…In addition, two case reports of young female WD patients illustrate signs and symptoms of pituitary dysfunction ( 9 , 10 ). Previous reports of Asian patients also found pituitary dysfunction as part of WD in a Korean and a Chinese patient ( 11 , 12 ) where one ATP7B mutation was shared with our case in the latter report. Taken together, we assume secondary neural damage to be the most likely cause of hypopituitarism in WD, but further research is needed to clarify this.…”

Section: Discussionsupporting

confidence: 84%

Hypopituitarism in Wilson’s disease resolved after copper-chelating therapy

Mücke

Lange

et al. 2021

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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Summary Wilson’s disease (WD) is a rare disorder of copper metabolism usually presenting with variable liver damage and neuropsychiatric symptoms. Here we report a 39-year-old Taiwanese female with late manifestation of WD presenting with gonadotroph, thyreotroph and corticotroph hypopituitarism. Molecular genetic testing revealed compound heterozygosity for two mutations in exons 12 and 14 (c.2828G>A and c.3140A>T). Copper-chelating therapy with D-penicillamine and zinc was initiated along with supplementation of hydrocortisone and L-thyroxine. Hypopituitarism resolved when urinary copper excretion returned to normal levels under copper chelation. This case should raise awareness of pituitary function in WD patients. Learning points Hypopituitarism can complicate Wilson’s disease (WD) and endocrinologists should be aware of it when caring for hypopituitary patients. Hepatologists should consider endocrinologic testing for hypopituitarism when WD patients present with symptoms of adrenal insufficiency, thyroid or gonadal dysfunction. Copper-chelating treatment is mandatory and may lead to the recovery of pituitary function in such patients.

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Section: Discussionsupporting

confidence: 84%

Hypopituitarism in Wilson’s disease resolved after copper-chelating therapy

Mücke

Lange

et al. 2021

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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“…In the CuSO 4 (100 mg/kgBWt/day) exposed rats, the body weight at 1, 2, and 3 months were compared with the placebo group (Kumar et al, 2015). Cu toxicity may directly affect the various endocrinal system leading to amenorrhea, hypopituitarism, hypothyroidism, abnormal thyrotropin response to the thyroid‐releasing hormone, reduced thyroid‐binding globulin, or glucose intolerance due to excessive Cu deposition in the endocrinal glands (Dauth et al, 2021; Krysiak et al, 2012; Lee et al, 2016; Zhang et al, 2016). Excess Cu can also affect growth by producing renal tubular acidosis and impaired absorption of calcium and vitamin D (Kapoor et al, 2019; Palkar et al, 2011; Subrahmanyam et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

Stunting and wasting in neurological Wilson disease: Role of copper, zinc, and insulin‐like growth factor‐I

Kumar

Kalita

Misra

et al. 2023

Intl J of Devlp Neuroscience

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ObjectivesCopper (Cu) and zinc (Zn) are important trace elements for the growth and development of children. In Wilson disease (WD), impaired Cu metabolism may affect growth. This study was conducted to evaluate the height and weight of children with neurological WD and correlate these with serum Cu, Zn, and insulin‐like growth factor‐I (IGF‐I).MethodsThis prospective cohort study was conducted in a tertiary care teaching institute. Children with neurologic WD were included. The height, weight, and body‐mass index of each child were measured and categorized according to the revised national growth chart. Serum Cu, Zn, calcium, alkaline phosphatase, albumin, thyroid‐stimulating hormone, and urinary‐Cu were measured. Serum IGF‐1 was measured by enzyme‐linked immunosorbent assay. The relationship between height and weight with trace elements and IGF was analyzed using parametric or non‐parametric tests.ResultsThere were 52 children (5–18 years) with neurologic WD. Thirty‐six (69.2%) children had normal height, 12 (23.1%) were tall, and 4 (7.7%) were stunted. Forty‐six (88.5%) children had normal weight and six (11.5%) children were underweight. IGF‐1 correlated with height, weight, duration of treatment, and serum Zn level. About 15.4% of children had stunting and/or wasting, which was associated with low levels of serum IGF‐I, Zn, and calcium.ConclusionsStunting and/or wasting occurs in 15.4% of children with neurologic WD and is associated with reduced serum IGF‐I, Zn, and calcium concentration. Adjunctive Zn and calcium treatment may help in achieving normal growth.

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ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson’s Disease with Adrenocortical Insufficiency

et al. 2017

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Wilson's disease (WD) is an autosomal recessive disorder caused by defective function of the copper-transporting ATP7B protein. Symptoms are typically related to the brain and liver, while endocrinologic abnormalities are rare. Here, we reported a 12-year-old female patient that was initially presented with unusual skin darkening and low serum level of adrenocorticotropic hormone and diagnosed as having adrenocortical insufficiency. We further screened the mutation in ATP7B by direct DNA sequencing and found compound heterozygous mutations: a known pathogenic mutation in exon8:c.2333G>T (Arg778Leu) inherited from her mother and a variant in intron4:c.1707 + 5G>A inherited from her father. To explore the pathogenicity of the intronic variant, a minigene splicing assay was used to determine the effects of the splicing variant by analyzing reverse transcription PCR of ATP7B minigene transcript production. The result indicated that the c.1707 + 5G>A variant resulted in exon 4 skipping. We herein identified that 1707 + 5G>A intron 4 variant is a pathogenic mutation. Molecular genetic analysis and laboratory examination definitely confirmed the patient's condition as WD. Clinical status improved considerably after penicillamine treatment. Our results extended the mutation spectrum of ATP7B gene and highlighted the importance of molecular genetic analysis for the accurate diagnosis of atypical WD. WD may have diverse presentations and should be considered in children especially presenting with adrenocortical insufficiency as initial symptom, and this study highlights the importance of screening for hormone abnormal in WD.

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Hypopituitarism Presenting as Adrenal Insufficiency and Hypothyroidism in a Patient with Wilson's Disease: a Case Report

Cited by 4 publications

References 11 publications

Hypopituitarism in Wilson’s disease resolved after copper-chelating therapy

Hypopituitarism in Wilson’s disease resolved after copper-chelating therapy

Stunting and wasting in neurological Wilson disease: Role of copper, zinc, and insulin‐like growth factor‐I

ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson’s Disease with Adrenocortical Insufficiency

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