1.46 XY Gonadal Dysgenesis mimicking Turner Syndrome: Diagnostic challenges and clinical implications
Suseelah Bala Subramaniam ; Rabeah Md Zuki ; Loh Hoong Heng
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):13-
Introduction:
Swyer syndrome (46, XY gonadal dysgenesis) is a rare disorder of sex development, characterized by a phenotypic female
with streak gonads and hypergonadotropic hypogonadism. It presents with primary amenorrhea and delayed puberty.
Overlapping clinical features with Turner syndrome may cause diagnostic uncertainty, highlighting the role of karyotypic
evaluation in diagnosis.
Case:
A 35-year-old phenotypic female was first evaluated at age 27 during admission for an acute viral illness, when incidental
findings of primary amenorrhea, short stature (height 131 cm), webbed neck, pectus excavatum, and absent secondary
sexual characteristics raised suspicion of Turner syndrome. She had hypertension, with initial imaging suggesting
coarctation of the thoracic aorta. CT angiography showed focal narrowing of the descending aorta; multidisciplinary review
favored aortic folding, and she was managed conservatively. Endocrine evaluation demonstrated hypergonadotropic
hypogonadism, with markedly elevated follicle-stimulating hormone (FSH 108.6 IU/L) and luteinizing hormone (LH 23.16
IU/L) in the presence of low estradiol levels. Pelvic imaging revealed an atrophic uterus with absence of bilateral ovaries,
consistent with gonadal dysgenesis. Karyotypic analysis was performed, demonstrating a 46, XY genotype with confirmed
SRY gene presence, establishing the diagnosis of Swyer syndrome. DEXA scan demonstrated osteoporosis, in keeping
with prolonged hypogonadism. She was commenced on hormone replacement therapy, resulting in the development
of secondary sexual characteristics and regular withdrawal bleeding. She remains under structured multidisciplinary
follow-up, with endocrine-led management of hypothyroidism and osteoporosis, alongside cardiology follow-up and
gynecological surveillance.
Conclusion
This case highlights the diagnostic complexity of disorders of sex development with overlapping phenotypes and the need
for re-evaluation when clinical progression is atypical. Diagnosis enables hormone replacement therapy for induction of
secondary sexual characteristics and preservation of bone health. Integration of clinical, biochemical, and genetic data
within a multidisciplinary framework is essential to achieve diagnostic accuracy and optimize outcomes.
Turner Syndrome
2.Risk Assessment for Ramadan Fasting in People With Diabetes in Hospital-Based Diabetes Clinics Using the Updated 2026 IDF-DAR Risk Calculator
Raja Nurazni Raja Azwan ; Chin Voon Tong ; Lisa Mohamed Nor ; Marisa Khatijah Borhan ; Syarifah Syahirah Syed Abas ; Poh Shean Wong ; Ying Jie Tan ; Shartiyah Ismail ; Eunice Yi Chwen Lau ; Yueh Chien Kuan ; Noor Hafis Md Tob ; Shu Teng Chai ; Pei Lin Chan ; Xe Hui Lee ; Wei Wei Ng ; Jin Hui Ho ; Miza Hiryanti Zakaria ; Rabeah Md Zuki ; Wan Mohd Hafez Wan Hamzah ; Melissa Vergis ; Choon Peng Sun ; Vanusha Devaraja Pillai ; Chee Koon Low ; Shazatul Reza Mohd Redzuan ; Xin-Yi Ooi ; Siti Sanaa Wan Azman ; Deviga Lachumanan ; Saiful Shahrizal Shudim ; Zanariah Hussein
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):42-43
Introduction:
The 2021 IDF-DAR risk calculator had been previously
evaluated in multiple studies and subsequently widely
accepted and applied in clinical practice as a practical
standardized tool for patient risk stratification. Recently
updated, the 2026 IDF-DAR Risk calculator enables a more individualized, evidence-related evaluation of patientrelated and disease-related risk factors, incorporating
modern diabetes technologies, including continuous
glucose monitoring (CGM), automated insulin delivery
(AID) systems, and advanced insulin formulations to
enhance risk stratification. This tool allows medical
professionals to tailor Ramadan practices based on overall
factors toward promoting safe fasting.
Methodology:
This prospective multicentre observational study recruited
adults with Type 1 and Type 2 diabetes attending public
hospitals nationwide. People with diabetes (PwD) intending
to perform Ramadan fasting were invited to participate
and assessed using the 2026 IDF-DAR Risk Calculator in
the 6-week pre-Ramadan period between 30th January and
19th March 2026.
Results:
A total of 458 PwD were evaluated and stratified into low
(15.7%), moderate (41%), and high risk (43.3%) categories.
Most participants had Type 2 diabetes (83.6%), with 60.3%
having a disease duration exceeding 10 years and 43%
exhibiting poor glycemic control (hemoglobin A1c >9%).
Insulin therapy was used by 76.4% of participants, including
two individuals with Type 1 diabetes using AID systems.
Most participants reported no recent hypoglycemia (76.4%),
81.0% performed glucose monitoring, and 3.3% used CGM.
Severe comorbidities were uncommon, with 1.1% having
unstable macrovascular disease and 4.4% advanced chronic
kidney disease (estimated glomerular filtration rate <30).
Notably, 72.2% received structured Ramadan education.
Conclusion
Majority of PwD attending tertiary diabetes clinics were
in the moderate- to high-risk category and intended to
fast despite medical advice against fasting in some cases.
Although most participants were on insulin therapy,
hypoglycemia was low in the pre-Ramadan period.
Integration of modern technologies, advanced insulin
therapies, and structured education may support safer
fasting practices.
Risk Assessment
;
Diabetes Mellitus
;
Hospitals
;
Fasting


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