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Preliminary study of longitudinal changes in the pituitary and brain of children on growth hormone therapy

Low LS, Wong JHD, Tan LK, Chan WY, Jalaludin MY, Anuar Zaini A, et al.

J Neuroradiol, 2023 Mar;50(2):271-277.
PMID: 34800564 DOI: 10.1016/j.neurad.2021.11.004

BACKGROUND: In subjects with isolated growth hormone deficiency (IGHD), recombinant human growth hormone (rhGH) is an approved method to achieve potential mid-parental height. However, data reporting rhGH treatment response in terms of brain structure volumes were scarce. We report the volumetric changes of the pituitary gland, basal ganglia, corpus callosum, thalamus, hippocampus and amygdala in these subjects post rhGH treatment.
MATERIALS AND METHODS: This was a longitudinal study of eight IGHD subjects (2 males, 6 females) with a mean age of 11.1 ± 0.8 years and age-matched control groups. The pituitary gland, basal ganglia and limbic structures volumes were obtained using 3T MRI voxel-based morphology. The left-hand bone age was assessed using the Tanner-Whitehouse method. Follow-up imaging was performed after an average of 1.8 ± 0.4 years on rhGH.
RESULTS: Subjects with IGHD had a smaller mean volume of the pituitary gland, right thalamus, hippocampus, and amygdala than the controls. After rhGH therapy, these volumes normalized to the age-matched controls. Corpus callosum of IGHD subjects had a larger mean volume than the controls and did not show much volume changes in response to rhGH therapy. There were changes towards normalization of bone age deficit of IGHD in response to rhGH therapy.
CONCLUSION: The pituitary gland, hippocampus, and amygdala volumes in IGHD subjects were smaller than age-matched controls and showed the most response to rhGH therapy. Semi-automated volumetric assessment of pituitary gland, hippocampus, and amygdala using MRI may provide an objective assessment of response to rhGH therapy.

Matched MeSH terms: Dwarfism, Pituitary*
Fulltext Diagnosis of thanatophoric dwarfism in utero

Afzal M, Singh J, Ong SK

Med J Malaysia, 1983 Mar;38(1):47-50.
PMID: 6633336

Thanatophoric dwarfism is a severe form of neonatal shortlimbed skeletal dysplasia. Most infants are stillborn or die soon after birth. This disorder has well defined radiological features which distinguish it from the other forms of neonatal dwarfism. We report two cases where short limbs were detected on sonography and a diagnosis was made on antenatal radiographs and fetography.

Matched MeSH terms: Dwarfism/diagnosis
Fulltext Lethal neonatal dwarfism: a case of achondrogenesis

Afzal MK, Choo KE

Med J Malaysia, 1980 Sep;35(1):64-7.
PMID: 7254002

Achondrogenesis is a lethal neonatal chondrodysplasia with extreme micromelia and marked discrepancy between the relatively large head and the decreased trunk length. The affected neonates are usually delivered prematurely, and are stillborn or die soon after birth. Polyhydramnios is frequently present. It is an inherited autosomal recessive disease. The radiographic features are diagnostic.

Matched MeSH terms: Dwarfism/radiography
Fulltext Late presentation of turner syndrome and its complications

Huzairi Sani, Nada Syazana Zulkufli

Journal of Clinical and Health Sciences, 2018;3(2):51-55.
MyJurnal

Turner syndrome is one of the most common sex chromosome abnormalities with an estimated true prevalence of 1 in 2,000 in newborns. This case report is of a girl who presented to the adult endocrinologist at 16 years of age and subsequently diagnosed with Turner syndrome. Despite frequenting clinics for unrelated ailments, her short stature was overlooked hence not investigated for a causative pathology. The aim of this report is to explore the diagnostics of Turner syndrome, hormone treatments available and the importance of starting treatment early.

Matched MeSH terms: Dwarfism
Fulltext Thanatophoric Dysplasia: Case Report

Roszaman Ramli, Ahmad Murad Zainudin

International Medical Journal Malaysia, 2006;5(2):1-6.
MyJurnal

Thanatophoric dysplasia (TD) was reported earlier in the previous publication. It is one of the most common lethal human skletal dysplasia characterized by severe dwarfism. It occurs in 3 to 4 per 100,000 live births1 and is due to autosomal dominant sporadic de novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene3 which codes for the FGFR3 transmembrane receptor expressed largely by skeletal and brain tissues in the developing fetus where it is involved with growth regulation. The FGFR3 mutation in TD leads to generalized defects and lack of endochondral ossification, with membranous ossification being less impaired1. Male and female fetuses are equally affected. Two thanatophoric case of this extremely rare occurance are reported and discussed.

Matched MeSH terms: Dwarfism
Geographical distribution of persistent organochlorines in air, water and sediments from Asia and Oceania, and their implications for global redistribution from lower latitudes

Iwata H, Tanabe S, Sakai N, Nishimura A, Tatsukawa R

Environ Pollut, 1994;85(1):15-33.
PMID: 15091681

Persistent organochlorines in air, river water and sediment samples were analysed from eastern and southern Asia (India, Thailand, Vietnam, Malaysia, Indonesia) and Oceania (Papua New Guinea and Solomon Islands) to elucidate their geographical distribution in tropical environment. The concentrations of organochlorines in these abiotic samples collected from Taiwan, Japan and Australia were also monitored for comparison. Atmospheric and hydrospheric concentrations of HCHs (hexachlorocyclohexanes) and DDTs (DDT and its metabolites) in the tropical developing countries were apparently higher than those observed in the developed nations, suggesting extensive usage of these chemicals in the lower latitudes. CHLs (chlordane compounds) and PCBs (polychlorinated biphenyls) were also occasionally observed at higher levels in the tropics, implying that their usage area is also expanding southward. Distribution patterns of organochlorines in sediments showed smaller spatial variations on global terms, indicating that the chemicals released in the tropical environment are dispersed rapidly through air and water and retained less in sediments. The ratios of organochlorine concentrations in sediment and water phases were positively correlated with the latitude of sampling, suggesting that persistent and semivolatile compounds discharged in the tropics tend to be redistributed on a global scale.

Matched MeSH terms: Dwarfism
Fulltext Citrus bent leaf viroid

Khoo, Ying Wei, Iftikhar, Yasir, Kong, Lih Ling, Ganesan Vadamalai

The Pertanika Journal of Scholarly Research Reviews, 2017;3(3):31-40.
MyJurnal

Citrus bent leaf viroid (CBLVd) from genus Apscaviroid, is one of the widely distributed viroids among the seven citrus viroids. It is comprised of three variants: Citrus viroid-Ia (CVd-Ia) (327 - 329 nucleotides), Citrus viroid-Ib (CVd-Ib) (315 - 319 nucleotides) and Citrus viroid-I-low sequence similarity (CVd-I-LSS) (325 - 330 nucleotides). Virulence of CBLVd totally expressed on citrus plants. Etrog citron (Citrus medica (L.)) coinfected with CBLVd, Citrus exocortis viroid (CEVd), Citrus viroid-III (CVd-III) and Citrus viroid-V (CVd-V) showed epinasty, leaf rolling, and stunting. CBLVd has been reported to reduce the canopy proportion and fruit production of citrus trees inserted on trifoliate orange rootstock. Moreover, citrus tree infected with singly CBLVd or in combinations with CEVd, Hop stunt viroid (CVd-II) and CVd-III induced dwarfing have been associated with poor development of the root system. Reverse-transcriptase polymerase chain reaction (RT-PCR) amplification and multiplex reverse-transcriptase polymerase chain reaction (MRT-PCR) amplification have been widely used to detect citrus viroids including CBLVd. As citrus viroids are emerging threats in citrus groves, therefore, this review covers the evolution, geographical distribution and epidemiology, economic impact and symptomatology, host range and transmission, detection, and management will be helpful in formulating the integrated management strategies for CBLVd.

Matched MeSH terms: Dwarfism
Marjolin's Ulcer in Laron Syndrome - an Unexpected Combination: A Case Report

de la Paz EM

Malays Orthop J, 2020 Mar;14(1):78-80.
PMID: 32296486 DOI: 10.5704/MOJ.2003.012

Marjolin's ulcer is an atypical malignancy that develops from deep scars of chronically traumatised skin. Laron syndrome (LS) is a rare autosomal recessive growth retardation from a mutation in the growth hormone receptor (GHR) gene leading to defective GHR, growth hormone insensitivity and eventual low levels of insulin-like growth factor type 1 (IGF-1). Affected individuals present with proportionate dwarfism and other characteristic physical defects, but at the same time are conferred protection against cancer due to low serum levels of IGF-1. We report an exceptional case of Marjolin's ulcer in the foot of a female LS patient 30 years after she sustained flame burns as a 6-month-old baby. Three months before coming to us, she had a 2x3cm ulcer that turned into a rapidly enlarging fungating mass involving the leg, ankle, and foot. Histopathologic analysis of an incision biopsy showed well-differentiated squamous cell carcinoma. The extent of her lesion precluded wide excision. Below knee amputation was done. A second biopsy confirmed the histopathologic diagnosis. This is the first reported case in the literature of Marjolin's ulcer in LS which raises the possibility that IGF-1 deficiency does not completely protect against squamous cell cancer.

Matched MeSH terms: Dwarfism
Fulltext Clinical Features of Girls with Turner Syndrome in a Single Centre in Malaysia

Lee YL, Wu LL

J ASEAN Fed Endocr Soc, 2019;34(1):22-28.
PMID: 33442133 DOI: 10.15605/jafes.034.01.05

Objectives: Diagnosis of Turner syndrome in Malaysia is often late. This may be due to a lack of awareness of the wide clinical variability in this condition. In our study, we aim to examine the clinical features of all our Turner patients during the study period and at presentation.
Methodology: This was a cross-sectional study. Thirty-four (34) Turner patients were examined for Turner-specific clinical features. The karyotype, clinical features at presentation, age at diagnosis and physiologic features were retrieved from their medical records.
Results: Patients with 45,X presented at a median age of 1 month old with predominantly lymphoedema and webbed neck. Patients with chromosome mosaicism or structural X abnormalities presented at a median age of 11 years old with a broader clinical spectrum, short stature being the most common presenting clinical feature. Cubitus valgus deformity, nail dysplasia and short 4th/5th metacarpals or metatarsals were common clinical features occurring in 85.3%-94.1% of all Turner patients. Almost all patients aged ≥2 years were short irrespective of karyotype.
Conclusion: Although short stature is a universal finding in Turner patients, it is usually unrecognised till late. Unlike the 45,X karyotype, non-classic Turner syndrome has clinical features which may be subtle and difficult to discern. Our findings underscore the importance of proper serial anthropometric measurements in children. Awareness for the wide spectrum of presenting features and careful examination for Turner specific clinical features is crucial in all short girls to prevent a delay in diagnosis.

Matched MeSH terms: Dwarfism