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Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome

Balasubramaniam S, Kapoor R, Yeow JH, Lim PG, Flanagan S, Ellard S, et al.

J Pediatr Endocrinol Metab, 2011;24(7-8):573-7.
PMID: 21932603

Hyperinsulinism-hyperammonemia syndrome (HI/HA) (OMIM 606762), the second most common form of congenital hyperinsulinism (CHI) is associated with activating missense mutations in the GLUD1 gene, which encodes the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH). Patients present with recurrent symptomatic postprandial hypoglycemia following protein-rich meals (leucine-sensitive hypoglycemia) as well as fasting hypoglycemia accompanied by asymptomatic elevations of plasma ammonia. In contrast to other forms of CHI, the phenotype is reported to be milder thus escaping recognition for the first few months of life. Early diagnosis and appropriate management are essential to avoid the neurodevelopmental consequences including epilepsy and learning disabilities which are prevalent in this disorder. We report an infant presenting with afebrile seizures secondary to hyperinsulinemic hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene.
Bilateral adrenal cysts and ectopic pancreatic tissue in Beckwith-Wiedemann syndrome: is a conservative approach acceptable?

Rahmah R, Yong JF, Sharifa NA, Kuhnle U

J Pediatr Endocrinol Metab, 2004 Jun;17(6):909-12.
PMID: 15270410

Beckwith-Wiedemann syndrome is a common overgrowth syndrome associated with an increased risk of neoplasias which might be explained by the nature and localization of the genetic defect. While malignant tumors are often associated with hemihypertrophy, benign tumors are also found. We report a patient with the typical features of Beckwith-Wiedemann syndrome with two histologically different abdominal tumors, bilateral cystic adrenals and ectopic pancreatic tissue present at birth. In both tumors no malignancy could be detected. Ectopic pancreatic tissue is rarely seen and has been described in Beckwith-Wiedemann syndrome only once. After extirpation of the ectopic pancreatic tissue the cystic adrenals were left in situ since macroscopically no normal adrenal tissue could be identified and separated. Regular ultrasound examinations revealed complete resolution of the cystic adrenals within 24 months. Thus it seems that a conservative approach in selected tumors associated with the Beckwith-Wiedemann syndrome might be acceptable.
Penile length of newborns in Singapore

Lian WB, Lee WR, Ho LY

J Pediatr Endocrinol Metab, 2000 Jan;13(1):55-62.
PMID: 10689638

Micropenis is an important sign in congenital hypopituitarism and various disorders. Documented norms for penile length exist only for babies of Caucasian and Middle-Eastern origin. This study was carried out to establish such norms for Asian newborns. We studied 228 male live births within their first three days of life. Stretched penile lengths were marked off on unmarked wooden spatulas, which were placed vertically along the dorsal aspect of the penis, with one rounded end on the pubic bone. The mean penile length +/- S.D. for the full-term Asian baby was 3.6 +/- 0.4 cm. Race had a significant effect: Chinese 3.5 cm, Malay 3.6 cm and Indian 3.8 cm. Penile length correlated with birth weight and gestational age. Asian babies thus have similar norms to Caucasian babies. An Asian newborn whose penis measures less than 2.6 cm has micropenis and may need prompt investigation for underlying endocrine disorders.
Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review

Su X, Lin Y, Liu L, Mei H, Xu A, Zeng C, et al.

J Pediatr Endocrinol Metab, 2023 Jan 27;36(1):74-80.
PMID: 36433712 DOI: 10.1515/jpem-2022-0372

OBJECTIVES: Congenital generalized lipodystrophy (CGL) is a group of rare autosomal inherited diseases characterized by a widespread loss of adipose tissue. The main purpose of this study was to evaluate the features of Chinese patients with CGL2.
METHODS: Three patients diagnosed with CGL2 from our center were reviewed. Data on clinical features, results of laboratory analyses, and previous treatments were retrospectively collected. This study also reviewed studies that reported patients diagnosed with CGL2 in the last 30 years.
RESULTS: All patients presented a lack of subcutaneous fat, hypertriglyceridemia, reversed triangular faces, acanthosis nigricans, and hepatomegaly within the first six months of life. All three patients developed splenomegaly, and mental retardation in later life. Dietary control dramatically lowered triglyceride levels in all patients. One patient presented with diabetes mellitus at 1 year-old. Although combined therapy with low fat diet and metformin maintained normal levels of blood lipid and glucose, this patient developed hypertrophic cardiomyopathy at the age of three. By a literature review on all Chinese cases with CGL2, it is known that classic manifestations such as hypertriglyceridemia, hepatomegaly and diabetes mellitus can occur shortly after birth, and early diagnosis and treatment can improve quality of life. In this cohort, the most frequent variations are c.782dupG and c.974dup in the BSCL2 gene. However, the same genotype may have different clinical phenotypes in patients with CGL2.
CONCLUSIONS: This study not only described the clinical and genetic features of three patients with CGL2 in China, but also reviewed literature about CGL2 around the world.
Effect of obesity and excessive body fat on glycaemic control in paediatric type 1 diabetes

Tee PP, Wong JSL, Selveindran NM, Hong JYH

J Pediatr Endocrinol Metab, 2022 Dec 16;35(12):1474-1480.
PMID: 36278759 DOI: 10.1515/jpem-2022-0151

OBJECTIVES: Excessive adiposity is believed to contribute to insulin resistance, resulting in more complex metabolic outcomes and poorer glycaemic control. This study aimed to determine the prevalence of overweight/obese, excessive adiposity, and metabolic syndrome in type 1 diabetes mellitus (T1DM) children, who were from a relatively overweight/obese population, and to assess the effects on glycaemic control.
METHODS: A cross-sectional study was conducted from November 2019 to August 2020 on T1DM children between 6 and 18 years old who attended the Paediatric Endocrine Clinic Putrajaya Hospital. Anthropometry and bioelectrical impedance analysis (Inbody 720) were measured to analyse their effects towards glycated haemoglobin (HbA1c) via SPSS 21.
RESULTS: A total of 63 T1DM were recruited with an equal male-to-female ratio. The mean age was 12.4 ± 3.3 years old with a mean HbA1c of 9.8 ± 2.0%. The prevalence of overweight/obese and excessive body fat was 17.5 and 34.9%, respectively. Only 3 (6.8%) fulfilled the metabolic syndrome criteria. The waist circumference had a significant relationship with HbA1c. Every 10 cm increment of waist circumference was predicted to raise HbA1c by 0.8. The odds ratio of having abdominal obesity among T1DM with excessive body fat was 9.3 times.
CONCLUSIONS: Abdominal obesity is significantly associated with a poorer glycaemic control in T1DM children. Monitoring of waist circumference should be considered as part of the routine diabetic care.
Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature

Lee YL, Ting TH, Lim CT, Arrumugam-Arthini C, Karuppiah T, Ling KH

J Pediatr Endocrinol Metab, 2023 Oct 26;36(10):988-992.
PMID: 37621150 DOI: 10.1515/jpem-2023-0171

OBJECTIVES: PAX4 (Paired box 4), a transcription factor crucial in pancreatic beta cell development and function, is a rare cause of maturity-onset diabetes of the young (MODY). What is new? A novel PAX4 variant is verified by family segregation study to be likely pathogenic. A child below 10 years of age diagnosed to have PAX4-MODY, differing from previously reported paediatric cases diagnosed in adolescence.
CASE PRESENTATION: A child with diabetes diagnosed at age 8 years, harbored a PAX4 variant, c.890G>A (p.Gly297Asp), initially classified as variant of uncertain significance. Eleven family members (7 adults and 4 children) with and without diabetes across 3 generations were genotyped. The variant co-segregated with diabetes or prediabetes across 3 generations of the family. The variant is reclassified as likely pathogenic according to standard guidelines.
CONCLUSIONS: Genetic testing is essential to confirm PAX4-MODY as the presentation is variable even within the same family. PAX4 mutation needs to be considered in MODY genetic testing in Asian patients.