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2. A well child with prolonged oral thrush: an unexpected diagnostic journey.

Author

Gounari, Eleni, Elfeky, Reem, Ghataore, Lea, Muhi-Iddin, Nadia, Buchanan, Charles R., and Arya, Ved Bhushan

Subjects
THRUSHES, PEDIATRICS, HOSPITALS, TEAMS
Abstract

Oral thrush is a familiar presentation in both general practice and paediatrics, and is usually responsive to treatment in the community. Here, we present the diagnostic journey of a previously well boy aged 3 years who presented with treatment-resistant thrush and describe how 'unexpected' results led to eventual diagnosis and management. This intriguing case was managed jointly by district hospital general paediatric team and tertiary hospital specialist teams. [ABSTRACT FROM AUTHOR]

Published
2024
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5. A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD)

Author

Man, Elim, primary, Mushtaq, Imran, additional, Barnicoat, Angela, additional, Carmichael, Polly, additional, Hughes, Claire R, additional, Davies, Kate, additional, Aitkenhead, Helen, additional, Amin, Rakesh, additional, Buchanan, Charles R, additional, Cherian, Abraham, additional, Costa, Nikola J, additional, Creighton, Sarah M, additional, Duffy, Patrick G, additional, Hewson, Emma, additional, Hindmarsh, Peter C, additional, Monzani, Louisa C, additional, Peters, Catherine J, additional, Ransley, Philip G, additional, Smeulders, Naima, additional, Spoudeas, Helen A, additional, Wood, Dan, additional, Hughes, Ieuan A, additional, Katugampola, Harshini, additional, Brain, Caroline E, additional, Dattani, Mehul T, additional, and Achermann, John C, additional

Published
2022
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7. A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).

Author

Man, Elim, Mushtaq, Imran, Barnicoat, Angela, Carmichael, Polly, Hughes, Claire R, Davies, Kate, Aitkenhead, Helen, Amin, Rakesh, Buchanan, Charles R, Cherian, Abraham, Costa, Nikola J, Creighton, Sarah M, Duffy, Patrick G, Hewson, Emma, Hindmarsh, Peter C, Monzani, Louisa C, Peters, Catherine J, Ransley, Philip G, Smeulders, Naima, and Spoudeas, Helen A

Subjects
YOUNG adults, MEDICAL personnel, ADRENOGENITAL syndrome, SEX chromosomes, SCIENTIFIC observation, INGUINAL hernia
Abstract

Context Differences of sex development (DSD) represent a wide range of conditions presenting at different ages to various health professionals. Establishing a diagnosis, supporting the family, and developing a management plan are important. Objective We aimed to better understand the presentation and prevalence of pediatric DSD. Methods A retrospective, observational cohort study was undertaken in a single tertiary pediatric center of all children and young people (CYP) referred to a DSD multidisciplinary team over 25 years (1995-2019). In total, 607 CYP (520 regional referrals) were included. Data were analyzed for diagnosis, sex-assignment, age and mode of presentation, additional phenotypic features, mortality, and approximate point prevalence. Results Among the 3 major DSD categories, sex chromosome DSD was diagnosed in 11.2% (68/607) (most commonly 45,X/46,XY mosaicism), 46,XY DSD in 61.1% (371/607) (multiple diagnoses often with associated features), while 46,XX DSD occurred in 27.7% (168/607) (often 21-hydroxylase deficiency). Most children (80.1%) presented as neonates, usually with atypical genitalia, adrenal insufficiency, undescended testes or hernias. Those presenting later had diverse features. Rarely, the diagnosis was made antenatally (3.8%, n = 23) or following incidental karyotyping/family history (n = 14). Mortality was surprisingly high in 46,XY children, usually due to complex associated features (46,XY girls, 8.3%; 46,XY boys, 2.7%). The approximate point prevalence of neonatal referrals for investigation of DSD was 1 in 6347 births, and 1 in 5101 overall throughout childhood. Conclusion DSD represent a diverse range of conditions that can present at different ages. Pathways for expert diagnosis and management are important to optimize care. [ABSTRACT FROM AUTHOR]

Published
2023
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9. Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK

Author

Buonocore, Federica, primary, Maharaj, Avinaash, additional, Qamar, Younus, additional, Koehler, Katrin, additional, Suntharalingham, Jenifer P, additional, Chan, Li F, additional, Ferraz-de-Souza, Bruno, additional, Hughes, Claire R, additional, Lin, Lin, additional, Prasad, Rathi, additional, Allgrove, Jeremy, additional, Andrews, Edward T, additional, Buchanan, Charles R, additional, Cheetham, Tim D, additional, Crowne, Elizabeth C, additional, Davies, Justin H, additional, Gregory, John W, additional, Hindmarsh, Peter C, additional, Hulse, Tony, additional, Krone, Nils P, additional, Shah, Pratik, additional, Shaikh, M Guftar, additional, Roberts, Catherine, additional, Clayton, Peter E, additional, Dattani, Mehul T, additional, Thomas, N Simon, additional, Huebner, Angela, additional, Clark, Adrian J, additional, Metherell, Louise A, additional, and Achermann, John C, additional

Published
2021
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10. Prolactinoma in childhood and adolescence—Tumour size at presentation predicts management strategy: Single centre series and a systematic review and meta‐analysis

Author

Arya, Ved Bhushan, primary, Aylwin, Simon J. B., additional, Hulse, Tony, additional, Ajzensztejn, Michal, additional, Kalitsi, Jennifer, additional, Kalogirou, Nicolas, additional, Bodi, Istvan, additional, Thomas, Nick, additional, Hampton, Tim, additional, Kapoor, Ritika R., additional, and Buchanan, Charles R., additional

Published
2020
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11. IgG4-related hypophysitis in adolescence

Author

Arya, Ved Bhushan, primary, El-Gasim, Sarra Abu, additional, Das, Sreena, additional, Reisz, Zita, additional, Zebian, Bassel, additional, D’Cruz, David, additional, King, Andrew, additional, Hampton, Tim, additional, Aylwin, Simon J. B., additional, Kapoor, Ritika R., additional, and Buchanan, Charles R., additional

Published
2020
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19. Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies

Author

Magré, Jocelyne, Delépine, Marc, Van Maldergem, Lionel, Robert, Jean-Jacques, Maassen, J. Antonie, Meier, Muriel, Panz, Vanessa R., Kim, Chong Ae, Tubiana-Rufi, Nadia, Czernichow, Paul, Seemanova, Eva, Buchanan, Charles R., Lacombe, Didier, Vigouroux, Corinne, Lascols, Olivier, Kahn, C. Ronald, Capeau, Jacqueline, and Lathrop, Mark

Published
2003

24. Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date – A Large Case Series of Unrelated Patients and a Literature Review

Author

Arya, Ved Bhushan, primary, Chawla, Garima, additional, Nambisan, Aparna K.R., additional, Muhi-Iddin, Nadia, additional, Vamvakiti, Ekaterini, additional, Ajzensztejn, Michal, additional, Hulse, Tony, additional, Ferreira Pinto, Clare, additional, Lahiri, Nayana, additional, Bint, Susan, additional, Buchanan, Charles R., additional, and Kapoor, Ritika R., additional

Published
2019
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25. IgG4-related hypophysitis in adolescence.

Author

Arya, Ved Bhushan, El-Gasim, Sarra Abu, Das, Sreena, Reisz, Zita, Zebian, Bassel, D'Cruz, David, King, Andrew, Hampton, Tim, Aylwin, Simon J. B., Kapoor, Ritika R., and Buchanan, Charles R.

Abstract

IgG4-related hypophysitis is a novel clinical disease entity, which is typically seen in the sixth decade of life and is typically complicated by hypopituitarism. We describe an adolescent female with IgG4-related hypophysitis with normal pituitary function and summarize the relevant literature. A 11.8-year-old girl presented with headache and left VI cranial nerve palsy. MRI brain identified an enlarged pituitary gland. Endocrine investigations revealed normal pituitary function. She underwent a transsphenoidal biopsy of the pituitary gland, and histological examination confirmed the diagnosis of IgG4-related hypophysitis. Serum IgG4 concentrations were normal and no evidence of other organ involvement was found. Although the patient tested strongly positive for TB on an interferon gamma release assay, pituitary biopsy was negative for granuloma formation and acid-fast bacilli (Ziehl-Neelson staining). IgG4-related hypophysitis was treated with oral prednisolone and mycophenolate-mofetil with a good response. We describe to the best of our knowledge, the youngest patient in the published literature with IgG4-related hypophysitis presenting without pituitary insufficiency. A literature review identified only five cases of IgG4-related hypophysitis in adolescence. Serum IgG4 concentrations were normal in all, except one of the adolescent patients reported so far, and appear unhelpful in diagnosis in this age group. [ABSTRACT FROM AUTHOR]

Published
2021
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26. Prolactinoma in childhood and adolescence—Tumour size at presentation predicts management strategy: Single centre series and a systematic review and meta‐analysis.

Author

Arya, Ved Bhushan, Aylwin, Simon J. B., Hulse, Tony, Ajzensztejn, Michal, Kalitsi, Jennifer, Kalogirou, Nicolas, Bodi, Istvan, Thomas, Nick, Hampton, Tim, Kapoor, Ritika R., and Buchanan, Charles R.

Subjects
PROLACTINOMA, HORMONE deficiencies, TEENAGE boys, ADOLESCENCE, COMBINED modality therapy, TUMORS
Abstract

Objective: To report the clinical presentation, management and outcomes of young patients with prolactinomas (<20 years) and conduct a systematic review and meta‐analysis. Patients and Design: Clinical, biochemical and radiological data (1996‐2018) were collected from our centre. A systematic review and meta‐analysis of published literature (1994‐2019) on prolactinoma (age <20 years) were conducted. Both random and fixed effects meta‐analysis were used to pool outcomes across studies. Results 1 Case series: Twenty‐two patients (14 females) were identified; median age at diagnosis 15.7 years (range 13‐19); 12 patients (6 females) had a macroprolactinoma. Seven patients (macroprolactinoma‐6) had associated pituitary hormone deficiencies at presentation. Five patients (4 males) underwent surgical resection due to poor response to cabergoline or apoplexy. Patients undergoing surgery had larger tumours (p <.02) and higher serum prolactin concentration (p <.005). All patients with macroprolactinoma >20 mm required surgical intervention. Results 2 Systematic review and meta‐analysis: We selected 11 studies according to strict inclusion criteria describing 275 patients. Macroprolactinoma was more common in girls (78.7% [95% CI 70.5‐85.9]) than boys and was more frequent than microprolactinoma (56.6% [95% CI 48.4‐64.5]). In males, only 6/57 (10.5%) of tumours were microprolactinoma as compared to 102/198 (51.5%) microprolactinoma in females (risk difference −0.460; [95% CI −0.563 to −0.357]; p <.001). Surgery was first‐line therapy in 18.9% patients, with another 15.4% requiring it as a second line (overall 31.3%). Conclusions: Macroprolactinoma, particularly if >20 mm, usually requires multimodal therapy including surgical intervention. While overall prolactinomas in <20 years age group are more common in females, the proportion of macroprolactinoma vs microprolactinoma is greater in males, particularly for large invasive tumours. Microprolactinoma is a rare diagnosis in adolescent males. [ABSTRACT FROM AUTHOR]

Published
2021
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27. Orthotopic liver transplantation reverses the adverse nutritional changes of end-stage liver disease in children

Author

Holt, Richard I.G., Broide, Effrat, Buchanan, Charles R., Miell, John P., Baker, Alastair J., Mowat, Alex P., and Mieli-Vergani, Giorgina

Subjects
Liver -- Transplantation, Transplantation of organs, tissues, etc. in children -- Health aspects, Children -- Food and nutrition, Food/cooking/nutrition, Health
Abstract

The changes in growth and body composition after orthotopic liver transplantation (OLT) were studied in 61 children [median age at OLT 3.49 y (range: 0.04 14.5 y), 26 boys and 35 girls] who had survived [is greater than or equal to] 1 y post-OLT. Height, weight, midarm circumference (MAC), triceps skinfold thickness (TSF), and subscapular skinfold thickness (SSF) were measured at OLT, 3 and 6 mo later, then annually up to 5 y. SD scores (SDS) were derived from population standards. Results are reported as mean SDS [+ or -] SEM. At OLT the children were short and malnourished (height: - 0.98 [+ or -] 0.22; weight: - 0.82 [+ or -] 0.18; MAC: - 1.77 [+ or -] 0.21; TSF: - 1.27 [+ or -] 0.17; SSF: - 1.49 [+ or -] 0.17). By 3 mo post-OLT, there was a sustained improvement in MAC (- 0.73 + 0.22), TSF (- 0.47 [+ or -] 0.18), and SSF (- 0.50 [+ or -] 0.18). Weight SDS (-0.48 [+ or -] 0.20) improved by 6 mo without significant change in height SDS. The three children with Alagille syndrome were smaller (height, weight, and MAC) than children with other diagnoses but did show catch-up growth. Fulminant hepatic failure was not associated with growth failure before or after OLT. Infants (n = 14) were smaller and more malnourished at OLT (smaller skinfold thicknesses and lower weight SDS) than those who received transplants at an older age. By 1 y post-OLT, the only persisting difference was in TSF. Abnormal liver function at I y post-OLT (n = 8) and repeated episodes of steroid-treated rejection (n = 13) were associated with worsening height and weight SDS. The use of tacrolimus for graft salvage from rejection (n = 6) was not associated with growth failure. In conclusion, end-stage liver disease has a more adverse effect on MAC, TSF, and SSF than on height and weight, but a marked and rapid improvement occurred post-OLT. Children who were most severely malnourished and growth restricted at the time of OLT showed the greatest catch-up growth after OLT.

Published
1997

34. Variations inPROKR2, But NotPROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia

Author

McCabe, Mark J., primary, Gaston-Massuet, Carles, additional, Gregory, Louise C., additional, Alatzoglou, Kyriaki S., additional, Tziaferi, Vaitsa, additional, Sbai, Oualid, additional, Rondard, Philippe, additional, Masumoto, Koh-hei, additional, Nagano, Mamoru, additional, Shigeyoshi, Yasufumi, additional, Pfeifer, Marija, additional, Hulse, Tony, additional, Buchanan, Charles R., additional, Pitteloud, Nelly, additional, Martinez-Barbera, Juan-Pedro, additional, and Dattani, Mehul T., additional

Published
2013
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41. Avoiding autocannibalism.

Author

Ross, Richard J.M., Miell, John P., and Buchanan, Charles R.

Subjects
METABOLISM, TRAUMATIC shock (Pathology), INSULIN, SOMATOTROPIN
Abstract

Proposes ways on preventing catabolism following trauma experience. Impact of low concentration of insulin-like growth factor on catabolic state; Effect of insulin on improving nitrogen balance; Effectiveness of growth hormone on improving nutritional state.

Published
1991
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42. A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD)

Author

Elim Man, Imran Mushtaq, Angela Barnicoat, Polly Carmichael, Claire R Hughes, Kate Davies, Helen Aitkenhead, Rakesh Amin, Charles R Buchanan, Abraham Cherian, Nikola J Costa, Sarah M Creighton, Patrick G Duffy, Emma Hewson, Peter C Hindmarsh, Louisa C Monzani, Catherine J Peters, Philip G Ransley, Naima Smeulders, Helen A Spoudeas, Dan Wood, Ieuan A Hughes, Harshini Katugampola, Caroline E Brain, Mehul T Dattani, John C Achermann, Man, Elim [0000-0003-1549-2450], Mushtaq, Imran [0000-0002-7930-0342], Hughes, Claire R [0000-0003-1434-1773], Davies, Kate [0000-0003-4640-533X], Aitkenhead, Helen [0000-0002-1787-9467], Amin, Rakesh [0000-0003-0929-8467], Buchanan, Charles R [0000-0002-9885-3698], Hindmarsh, Peter C [0000-0003-2490-8518], Peters, Catherine J [0000-0003-1423-3529], Smeulders, Naima [0000-0002-2656-6593], Spoudeas, Helen A [0000-0002-0774-6601], Wood, Dan [0000-0002-5195-5515], Hughes, Ieuan A [0000-0002-8787-1575], Katugampola, Harshini [0000-0003-3426-2511], Brain, Caroline E [0000-0002-0630-6532], Dattani, Mehul T [0000-0002-0365-5809], Achermann, John C [0000-0001-8787-6272], and Apollo - University of Cambridge Repository

Subjects
androgen insensitivity, ambiguous genitalia, sex development, Endocrinology, Diabetes and Metabolism, DSD, congenital adrenal hyperplasia, hypospadias, testicular dysgenesis
Abstract

Context Differences of sex development (DSD) represent a wide range of conditions presenting at different ages to various health professionals. Establishing a diagnosis, supporting the family, and developing a management plan are important. Objective We aimed to better understand the presentation and prevalence of pediatric DSD. Methods A retrospective, observational cohort study was undertaken in a single tertiary pediatric center of all children and young people (CYP) referred to a DSD multidisciplinary team over 25 years (1995-2019). In total, 607 CYP (520 regional referrals) were included. Data were analyzed for diagnosis, sex-assignment, age and mode of presentation, additional phenotypic features, mortality, and approximate point prevalence. Results Among the 3 major DSD categories, sex chromosome DSD was diagnosed in 11.2% (68/607) (most commonly 45,X/46,XY mosaicism), 46,XY DSD in 61.1% (371/607) (multiple diagnoses often with associated features), while 46,XX DSD occurred in 27.7% (168/607) (often 21-hydroxylase deficiency). Most children (80.1%) presented as neonates, usually with atypical genitalia, adrenal insufficiency, undescended testes or hernias. Those presenting later had diverse features. Rarely, the diagnosis was made antenatally (3.8%, n = 23) or following incidental karyotyping/family history (n = 14). Mortality was surprisingly high in 46,XY children, usually due to complex associated features (46,XY girls, 8.3%; 46,XY boys, 2.7%). The approximate point prevalence of neonatal referrals for investigation of DSD was 1 in 6347 births, and 1 in 5101 overall throughout childhood. Conclusion DSD represent a diverse range of conditions that can present at different ages. Pathways for expert diagnosis and management are important to optimize care.

Published
2022

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