1.Clinical features of girls with Turner syndrome in a single centre in Malaysia.
Journal of the ASEAN Federation of Endocrine Societies 2019;34(1):22-28
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.
Human ; Turner Syndrome ; Karyotype
2.Case series of testicular adrenal rest tumours in boys with congenital adrenal hyperplasia: A single centre experience
Karen Sue Wan Leong ; Loo Ling Wu
The Medical Journal of Malaysia 2019;74(1):92-93
Testicular adrenal rest tumours (TART) are aberrant adrenal
tissue within the testes (1). Although benign, they can lead
to obstruction of the seminiferous tubules and infertility in
patients with congenital adrenal hyperplasia (CAH). We
report six boys who developed TART, a complication of CAH.
Diagnosis was confirmed by ultrasound and testicular vein
sampling of elevated 17-hydroxyprogesterone (17-OHP)
levels. Glucocorticoids dosages were increased 1½-2 folds
to suppress size of the aberrant adrenal tissues. Despite
reductions in 17-OHP, the lesions remained unchanged.
Three patients had testis-sparing surgery to excise the TART
and to preserve normal testicular tissues.
3.Identification of Y Chromosomal Material in Turner Syndrome by Fluorescence In Situ Hybridisation (FISH)
Reena Rahayu Md Zin ; Sharifah Noor Akmal ; Zubaidah Zakaria ; Clarence Ko Ching Huat ; Siti Mariam Yusof ; Julia Mohd Idris ; Zarina Abdul Latif ; Wu Loo Ling ; Wong Ming
Medicine and Health 2008;3(1):22-29
Turner syndrome is one of the most common chromosomal abnormalities affecting
newborn females. More than half of patients with Turner syndrome have a 45X karyotype.
The rest of the patients may have structurally abnormal sex chromosomes or are mosaics
with normal or abnormal sex chromosomes. Mosaicism with a second X sex chromosome
is not usually of clinical significance. However, Turner syndrome patients having a second
Y chromosome or Y chromosomal material are at risk of developing gonadoblastoma later in life. The aim of this study is to compare the results of conventional (karyotyping) and
molecular cytogenetics (FISH), and discuss the advantages and limitations in the
diagnosis of Turner syndrome. We also aim to compare the degree of mosaicism identified
using conventional cytogenetics and FISH techniques. Conventional cytogenetics and
FISH analyses were performed on eight peripheral blood samples of patients with Turner
syndrome collected between 2004 and 2006. From this study, two out of eight patients with
Turner syndrome were found to have the sex determining region on the Y chromosome
(SRY) gene by FISH analysis. Our results showed that the rate of detection of mosaic
cases in Turner syndrome was also increased to 88% after using the FISH technique. We
concluded that FISH is more superior to conventional cytogenetics in the detection of the Y
chromosomal material. FISH is also a quick and cost effective method in diagnosing
Turner syndrome and assessing the degree of mosaicism.
4.Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome.
Singapore medical journal 2012;53(7):e142-4
Neonatal diabetes mellitus (DM) is defined as insulin-requiring DM in the first six months of life. Unlike type 1 DM, it is a monogenic disorder resulting from a de novo mutation in the genes involved in the development of the pancreas, β-cell mass or secretory function. The majority of neonatal DM cases are caused by a heterozygous activating mutation in the KCNJ11 or ABCC8 genes that encode the Kir6.2 and SUR1 protein subunits, respectively, in the KATP channel. Sulphonylurea, a KATP channel inhibitor, can restore insulin secretion, hence offering an attractive alternative to insulin therapy. We report three cases of neonatal DM and their genetic mutations. Two patients were successfully switched over to sulphonylurea monotherapy with resultant improvement in the quality of life and a more stable blood glucose profile. Patients with neonatal DM should undergo genetic evaluation. For patients with KCNJ11 and ABCC8 gene mutation, oral sulphonylurea should be considered.
ATP-Binding Cassette Transporters
;
genetics
;
Blood Glucose
;
metabolism
;
Diabetes Mellitus
;
genetics
;
therapy
;
Female
;
Genotype
;
Heterozygote
;
Humans
;
Infant
;
Infant, Newborn
;
Male
;
Models, Biological
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Models, Genetic
;
Molecular Biology
;
Mutation
;
Pancreas
;
physiology
;
Potassium Channels, Inwardly Rectifying
;
genetics
;
Quality of Life
;
Receptors, Drug
;
genetics
;
Sulfonylurea Compounds
;
therapeutic use
;
Sulfonylurea Receptors