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Fulltext Turner syndrome with ring x chromosome: do they have a distinct phenotype?

Lee, Yee Lin, Salwati Shuib, Wu, Loo Ling

International Medical Journal Malaysia, 2018;17(3):99-102.
MyJurnal

In contrast to classic Turner syndrome, Turner patients with ring X chromosome are associated with distinct dysmorphism and are likely to be mentally impaired. Four Turner patients with ring X chromosome were examined for phenotypic features of Turner syndrome and additional dysmorphism. Both patients 1 and 2 are twins with normal intelligence whereas patients 3 and 4 have mental impairment. With the exception of patient 4, the other three patients only have few Turner characteristics. None of the patients have the distinctive dysmorphism previously reported in Turner syndrome with ring X chromosome. Both twins developed spontaneous puberty. Patients 3 and 4 however had no spontaneous puberty. We postulate that this variation may be related to the ring size, the proportion of 45,X and ring X chromosome in cell lines of various body tissues as well as the ability of these rings to be inactivated as a result of lyonisation.
Fulltext Subcutaneous fat necrosis and hypercalcaemia following therapeutic hypothermia in an infant with birth asphyxia

Reyhanah Mohd Rashid, Wan Nurulhuda, Synn, Joyce Hong Soo, Wu, Loo Ling, Cheah, Fook Choe

Malaysian Journal of Paediatrics and Child Health, 2016;22(101):0-0.
MyJurnal

Subcutaneous fat necrosis is a recognised complication of hypothermia. There appears to be a resurgence in this condition when therapeutic hypothermia emerges as a standard of care for asphyxiated infants. The TOBY trial reported an incidence of 0.1% for 1239 infants cooled.(Copied from article)
Fulltext Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome

Ooi HL, Wu LL

Singapore Med J, 2012 Jul;53(7):e142-4.
PMID: 22815030

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.
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.
Persistent neonatal hypoglycaemia as a result of hypoplastic pituitary gland

Yong SC, Boo NY, Wu LL

Br J Hosp Med (Lond), 2006 Jun;67(6):326.
PMID: 16821748 DOI: 10.12968/hmed.2006.67.6.21296
Fulltext Identification of Y Chromosomal Material in Turner Syndrome by Fluorescence In Situ Hybridisation (FISH)

Reena Rahayu Md Zin, Sharifah Noor Akmal, Zubaidah Zakaria, Haut, Clarence Ko Ching, Siti Mariam Yusof, Julia Mohd Idris, et al.

Medicine & Health, 2008;3(1):22-29.
MyJurnal

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.
Episodic vomiting and headache in children: consider occipital epilepsy

Lope RJ, Wong SW, Wu LL

J Paediatr Child Health, 2010 Apr;46(4):204-6.
PMID: 20412414 DOI: 10.1111/j.1440-1754.2009.01662.x

Children with occipital seizures often have ictal autonomic symptoms such as pallor and vomiting and lack motor manifestations. This has lead to misdiagnosis of occipital seizures in children. The following case report highlights the clinical features of a child with occipital epilepsy misdiagnosed as having migraine. The aetiology of symptomatic occipital epilepsy will be discussed.
Fulltext Health-related quality of life of female patients with congenital adrenal hyperplasia in Malaysia

Zainuddin AA, Grover SR, Abdul Ghani NA, Wu LL, Rasat R, Abdul Manaf MR, et al.

Health Qual Life Outcomes, 2020 Aug 01;18(1):258.
PMID: 32738912 DOI: 10.1186/s12955-020-01515-9

BACKGROUND: This study investigates the health-related quality of life (HRQOL) of female patients with congenital adrenal hyperplasia (CAH) in Malaysia. The objectives were to attain socio-demographic and medical data on these Malaysian females with CAH and establish their health-related quality of life (HRQOL) in comparison to age matched diabetic controls.
METHODS: A cross-sectional study was conducted over 6 months in the two main tertiary centres for CAH patients in Malaysia. Participants including 59 female-raised CAH patients (mean age ± SD = 16.3 ± 4.2 years, range 10-28 years) compared to 57 age-matched female diabetic patients (mean age ± SD = 16.5 ± 3.4 years, range 10-26 years). Socio-demographic and medical profiles was obtained through semi-structured interviews. HRQOL of participants were evaluated utilising validated, Malay translated questionnaires which were age appropriate: Pediatric Quality of Life Inventory (PedsQL v4.0) scales for Child (8-12) and Adolescent (13-18) and Medical Outcome Survey 36-item Short Form version. These were then compared to the diabetic controls.
RESULTS: The CAH participants consisted of children (ages 10-12 years, n = 12), adolescents (ages 13-17 years, n = 29) and adults (≥ 18 years, n = 18). The majority were Malays (64.4%) and had salt-wasting CAH (67.8%). There were no significant differences between the total mean score of the HRQOL of the combined children and adolescents CAH group (total mean score ± SD = 81.6 ± 17.9, 95% CI = 75.6-87.6) when compared to age-matched diabetic patients (total mean score ± SD = 80.8 ± 11.0, 95% CI = 77.0-84.5, P = 0.81, effect size = 0.05); no significant difference between the adult CAH and diabetic controls in the physical [median score (IQR) CAH vs diabetics; 49.3 (11.4) vs. 50.2 (6.1), P = 0.60, effect size = 0.09] and the mental composite scores [median score (IQR) CAH vs. diabetics; 47.8 (14.1) vs. 50.0 (10.8), P = 0.93, effect size = 0.01].
CONCLUSIONS: The HRQOL of the Malaysian CAH cohort were comparable to the diabetic controls.
Fulltext Diabetic ketoacidosis at diagnosis of type 1 diabetes mellitus in Malaysian children and adolescents

Hong JYH, Jalaludin MY, Mohamad Adam B, Fuziah MZ, Wu LL, Rasat R, et al.

Malays Fam Physician, 2015;10(3):11-18.
PMID: 27570603 MyJurnal

Background: Diabetic ketoacidosis (DKA) is a late presentation of newly diagnosed type 1 diabetes mellitus (DM) in children. The aim of this study was to determine the clinical characteristics of type 1 DM at presentation so that appropriate actions can be taken to promote early diagnosis.
Methods: This was a retrospective cohort review from a patient registry database. Data on all patients younger than 20 years old diagnosed with type 1 DM who had been registered with the Malaysian Diabetes in Children and Adolescents Registry (DiCARE) from its inception in 2006 until 2009 were analysed.
Results: The study included 490 children and adolescents, out of which 57.1% were female. The mean (SD) age at diagnosis was 7.5 (3.7) years, which increased from year 2000 to 2009 [6.6 (3.3) years to 9.6 (3.5) years; p = 0.001]. An increasing percentage of DKA at diagnosis was observed from year 2000 (54.5%) to year 2009 (66.7%), which remained high and leveled between 54.5% and 75.0%. DKA was more common in patients with normal weight (p = 0.002) with no significant association with age, gender, ethnicity and status of family history of diabetes mellitus.
Conclusion: An increasing trend of age at diagnosis of patients with type 1 DM was observed. Besides that, proportion of DKA at diagnosis had remained high over the past decade. This study found that normal weight was associated with status of DKA, thus more detailed investigations are required to determine the risk factors for DKA.
Fulltext Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

Chow YP, Abdul Murad NA, Mohd Rani Z, Khoo JS, Chong PS, Wu LL, et al.

Orphanet J Rare Dis, 2017 Feb 21;12(1):40.
PMID: 28222800 DOI: 10.1186/s13023-017-0575-7

BACKGROUND: Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism.
METHODS AND RESULTS: Whole exome sequencing was performed on 2 sisters with PDS and their unaffected parents. Our results showed that both sisters inherited monoallelic mutations in the 2 known PDS genes, SLC26A4 (ENST00000265715:c.1343C > T, p.Ser448Leu) and GJB2 (ENST00000382844:c.368C > A, p.Thr123Asn) from their father, as well as another deafness-related gene, SCARB2 (ENST00000264896:c.914C > T, p.Thr305Met) from their mother. We postulated that these three heterozygous mutations in combination may be causative to deafness, and warrants further investigation. Furthermore, we also identified a compound heterozygosity involving the DUOX2 gene (ENST00000603300:c.1588A > T:p.Lys530* and c.3329G > A:p.Arg1110Gln) in both sisters which are inherited from both parents and may be correlated with early onset of goiter. All the candidate mutations were predicted deleterious by in silico tools.
CONCLUSIONS: In summary, we proposed that PDS in this family could be a polygenic disorder which possibly arises from a combination of heterozygous mutations in SLC26A4, GJB2 and SCARB2 which associated with deafness, as well as compound heterozygous DUOX2 mutations which associated with thyroid dysfunction.
Fulltext Malaysian Females With Congenital Adrenal Hyperplasia: Surgical Outcomes and Attitudes

Zainuddin AA, Grover SR, Soon CH, Nur Azurah AG, Mahdy ZA, Wu LL, et al.

Front Pediatr, 2019;7:144.
PMID: 31058121 DOI: 10.3389/fped.2019.00144

Background: Girls born with congenital adrenal hyperplasia have virilized external genitalia. There is considerable debate regarding both the outcomes of feminizing genitoplasty and timing of the surgery in this population. Objective: To investigate outcomes of females 46,XX individuals with CAH in Malaysia, the surgical outcomes of feminizing genitoplasty (FG) and their attitudes toward surgery. Study Design: This is a cross-sectional study involving the two main tertiary centers in Malaysia. All 46,XX patients with CAH and raised female, who had undergone FG were identified and invited to participate. Data on socio-demographic, medical profiles, and attitudes toward surgery were collected. A standardized evaluation of the external genitalia was undertaken including the anatomic and cosmetic evaluation by independent gynecologists. Results: Of 61 individuals identified, 59 participated-consisting of children (n = 12), adolescents (n = 29) and adults (n = 18). All but one had classical CAH (98.3%) and had undergone FG (n = 55, 93.2%) with surgery mostly undertaken by pediatric surgeons trained in DSD work (n = 44, 74.6%). Complications overall were low (20.3%), with repeat surgery rate of 9.1%. External genital examination was performed in 38 participants. Overall 36.8% had absent clitoral glands and 39.5% had a persistent urogenital sinus and in 10.5%, no vaginal orifices were seen. Poor cosmetic outcomes were present in 42.1% with 55.3% recommended for further assessment under general anesthetic. Almost half participants did not venture an opinion on FG, those who did varied from having a positive attitude toward it (18 participants) to 3 opining that it should not be done, or avoided or delayed. From the participants, 35.5% preferred FG to be done early in life compared to 44.0% of the parents. Conclusions: The reoperation rates of the feminizing genitoplasty surgeries were low however due to the anatomic and cosmetic outcomes, reassessment of the external genitalia of these CAH patients may be required once they consider becoming sexually active as they may require further treatment. Many factors such as cultural sensitivities and access to medical treatment and late diagnoses have an impact on attitudes toward FG.