mohammed didi

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Novel HNF1Avariant associated with congenital hyperinsulinism in infancy and maturity onset diabetes of young (MODY 3) in later life

Endocrine Abstracts, 2018

Bone Health Index is Low at Diagnosis of Growth Hormone Deficiency, and Improves During Growth Hormone Therapy

Height SDS 114 0.71 (0.61, 0.80) <0.001 Bone age delay 85 -1.2 (-1.5, -0.9) <0.001 BHI SDS ... more Height SDS 114 0.71 (0.61, 0.80) <0.001 Bone age delay 85 -1.2 (-1.5, -0.9) <0.001 BHI SDS 67 0.80 (0.58, 1.02) <0.001 Factor N Mean (SD) or N (%) Age (yrs) 120 11.6 (3.5) Gender: Female 120 31 (26%) Male 90 (74%) Height SDS 120 -2.43 (0.94) Bone age delay 99 1.9 (1.5) BHI SDS 85 -1.06 (1.04) IGF-I SDS 114 -2.45 (1.25) Peak GH (mcg/L) 116 3.6 (1.7) GH dose (μg/kg/day) 120 28.4 (3.7) Background • BoneXpert software calculates bone health index (BHI) from cortical thickness and mineralisation of three metacarpals (Figure 1) • Strong correlations between BHI and dual-energy x-ray absorptiometry (DXA) and peripheral quantitative computed CT (pQCT) measurements are reported • Low bone mineral density (BMD), measured by DXA, and improvement with growth hormone (GH) is described in childhood GH deficiency (GHD).

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Growth Hormone Therapy in Patients with Noonan Syndrome

Introduction Noonan Syndrome (NS) is an autosomal dominant condition that affects 1 in 1000 to 25... more Introduction Noonan Syndrome (NS) is an autosomal dominant condition that affects 1 in 1000 to 2500 live births and is associated with short stature. Studies have shown that height velocity (HV) improved significantly with the use of growth hormone (GH) in the first year of treatment and sustained for the second year. We aimed to look at the effects of GH therapy in our cohort of patients with NS.

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Thyroid and adrenocorticol status in extremely premature infants during the first five days of postnatal life

Is Bedside Monitoring of Blood Beta-Hydroxybutyrate Levels Reliable in the Management of Hypoglycaemia in Children?

Obesity is common at diagnosis of childhood pituitary adenoma and may persist following successful treatment

Clinical Endocrinology, 2019

ObjectiveThere is a paucity of data describing long‐term outcomes of paediatric patients with pit... more ObjectiveThere is a paucity of data describing long‐term outcomes of paediatric patients with pituitary adenoma. In this report, we describe clinical features, treatment and outcomes of a paediatric cohort.DesignRetrospective cohort study.PatientsTwenty‐four white Caucasian patients aged <16 years from a single tertiary care centre in the United Kingdom at diagnosis followed for (median, range) 3.3, 0.7‐8.4 years.MeasurementsClinical and radiological data at diagnosis and follow‐up.ResultsThirteen patients had prolactinomas (54.1%, age: 15.2 years, 13.2‐15.8 years; all females), including ten macroadenomas (11.0‐35.0 mm). Patients presented with menstrual disorders (91%), headache (46%), galactorrhoea (46%) and obesity (body mass index [BMI] SDS > 2): (38%). Ten patients with prolactinoma were treated with dopamine agonist alone, 3 also required surgery and 2 patients, cabergoline, surgery plus radiotherapy. Five patients had Cushing's disease (20.8%, age: 14.0, 4.0‐15.7 y...

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Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

Case Reports in Genetics, 2017

B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesi... more B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism, and congenital heart defects. A female infant, born at 34 weeks’ gestation to nonconsanguineous Caucasian parents with a birth weight of 1.9 kg, was noted to have cloacal abnormality, ventricular septal defect, pulmonary stenosis, and congenital sensorineural deafness. At 4 years of age, she was diagnosed with GH deficiency due to her short stature (height < 2.5 SD). MRI of the pituitary gland revealed a small anterior pituitary. She has multiple dysmorphic features: anteverted nares, small upturned nose, hypertelorism, slight frontal bossing, short proximal bo...

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The Challenges of Cortisol Replacement Therapy in Childhood: Observations from a Case Series of Children Treated with Modified-Release Hydrocortisone

Paediatric drugs, Jan 7, 2018

Hydrocortisone is the preferred treatment for adrenal insufficiency in childhood. A small minorit... more Hydrocortisone is the preferred treatment for adrenal insufficiency in childhood. A small minority of children experience low cortisol concentrations and symptoms of cortisol insufficiency, poorly responsive to modifications in dosing. We speculated that treatment with modified-release hydrocortisone Plenadren may be beneficial in these selected patients. The aim of this article was to report cortisol profiles during treatment with standard formulation hydrocortisone and Plenadren, and growth and weight gain during treatment with Plenadren in selected children with adrenal insufficiency. Data are reported as median (range). Eight patients (5 male) age 11.0 years (8.8-13.3), with adrenal insufficiency for 4.3 years (2.2-10.0) were treated with Plenadren in doses derived from cortisol concentrations measured during treatment with standard formulation hydrocortisone. Plasma cortisol was 262 nmol/L (114-654) 2 h after the morning dose (hydrocortisone dose 6.1 mg/m [4.3-7.1]) of standard...

Open resection of hypothalamic hamartomas for intractable epilepsy revisited, using intraoperative MRI

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, Jan 11, 2018

Hypothalamic hamartomas (HHs) are rare non-neoplastic lesions which cause drug-resistant epilepsy... more Hypothalamic hamartomas (HHs) are rare non-neoplastic lesions which cause drug-resistant epilepsy with associated behavioural, psychiatric and endocrine issues. With the development of new minimally invasive techniques for the treatment of HH, there is a need to reappraise the effectiveness and safety of each approach. We review the outcomes of HH patients treated surgically, utilizing intraoperative magnetic resonance imaging (IOMRI), by a team of Alder Hey NHS Foundation Trust tumour and epilepsy neurosurgeons since 2011. Patient records of all HH cases operated on since 2011 were reviewed to confirm history of presentation and clinical outcomes. Ten patients have undergone surgery for HH under the dual care of Alder Hey tumour and epilepsy neurosurgeons during this period. Eight cases had a midline transcallosal, interforniceal approach with the remaining 2 having a transcallosal, transforaminal approach. All patients had an IOMRI scan, with 40% needing further tumour resection p...

Testosterone Therapy Improves the First Year Height Velocity in Adolescent Boys with Constitutional Delay of Growth and Puberty

International Journal of Endocrinology and Metabolism, 2017

Background: Constitutional delay of growth and puberty (CDGP) can cause significant psychological... more Background: Constitutional delay of growth and puberty (CDGP) can cause significant psychological distress in adolescent boys. Although testosterone usage in this group has not been shown to affect the final adult height, the effect on the first year height velocity has not been widely reported. Objectives: The aim is to determine whether testosterone treatment improves the first year height velocity in boys with CDGP when compared to boys with CDGP who go through puberty spontaneously Methods: Retrospective data from 23 adolescent boys with CDGP was analysed. Ten out of 23 boys (43%) received testosterone injection (testosterone enanthate, 125 mg), once every 6 weeks for 3 doses in total. Both the groups (treated and untreated) had their height, bone age and testicular volume measured at the baseline, The height velocity and final predicted adult height were compared at the end of one year between both the groups. Results: In the testosterone-untreated group, the mean (± SD) chronological age, bone age, height standard deviation scores (SDS) and testicular volume were 14.3 years (± 0.3),12.1 years (± 1.6), -1.9 (± 0.8) and 4.7 mL (± 1.1) respectively. Within the testosteronetreated group the mean (± SD) chronological age, bone age, height SDS and testicular volume at presentation were 14.4 years (± 0.4), 11 years (± 1.6), -2.1 SD(± 0.6) and 4.5 mL (± 1.2) respectively. The mean age of treatment with testosterone was 14.4 years (± 0.44). The mean height velocity one year after treatment was 8.4 cm/year (± 1.7) in the testosterone treated group when compared to 6.1 cm/year (± 2.1) in the patients who did not receive treatment (P = 0.01). There was no significant difference in the final predicted height between the 2 groups (P = 0.15). Conclusions: Testosterone therapy improves the first year height velocity in boys with CDGP, without influencing their final predicted height.

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NS-22ENDOCRINE Sequelae Following Surgery for Hypothalamic Hamartomas with Intractable Epilepsy

Neuro-Oncology, 2016

BACKGROUND: Surgery is performed rarely in patients with hypothalamic hamartomas, but a small num... more

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Role of Metformin in the Treatment of Hypothalamic Obesity

Fluoxetine induced Hypoglycaemia in a patient with persistent form of Congenital Hyperinsulinism (CHI) on Lanreotide Therapy

Journal of clinical research in pediatric endocrinology, Jan 18, 2016

Antidepressant drugs are reported to cause alterations in blood glucose homeostasis in adults wit... more Antidepressant drugs are reported to cause alterations in blood glucose homeostasis in adults with diabetes mellitus. We report a patient with persistent congenital hyperinsulinism (CHI) who developed recurrent hypoglycaemia following Fluoxetine therapy. A 15-year-old girl with persistent CHI was initially managed with diazoxide therapy. She developed troublesome hypertrichosis, which affected her quality of life adversely. Diazoxide was then slowly weaned and stopped with the introduction of Octreotide, to which she responded well. Subcutaneous Lanreotide (long acting somatostatin analogue) was subsequently commenced (30mg, once monthly) as injecting Octreotide multiple times a day was proving to be difficult for the patient. The continuous blood glucose monitoring on monthly Lanreotide injections revealed good glycaemic control. Six months later, she developed depression due to psychosocial problems at school. She was commenced on Fluoxetine by the psychiatry team. She subsequentl...

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Cortisol responses to the insulin tolerance test and glucagon stimulation tests in children with idiopathic short stature and idiopathic isolated growth hormone deficiency

Endocrine Abstracts, 2015

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Delayed puberty due to a non-functioning pituitary adenoma

Endocrine Abstracts, 2015

Mode of clinical presentation and delayed diagnosis of turner syndrome

Endocrine Abstracts, 2015

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Effect of thyroxine on brain microstructure in extremely premature babies: magnetic resonance imaging findings in the TIPIT study

Pediatric Radiology, 2014

In order to assess relationships between thyroid hormone status and findings on brain MRI, a subs... more In order to assess relationships between thyroid hormone status and findings on brain MRI, a subset of babies was recruited to a multi-centre randomised, placebo-controlled trial of levothyroxine (LT4) supplementation for babies born before 28 weeks&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; gestation (known as the TIPIT study, for Thyroxine supplementation In Preterm InfanTs). These infants were imaged at term-equivalence. Forty-five TIPIT participants had brain MRI using diffusion tensor imaging (DTI) to estimate white matter development by apparent diffusion coefficient (ADC), fractional anisotropy (FA) and tractography metrics of number and length of streamlines. We made comparisons between babies with the lowest and highest plasma FT4 concentrations during the initial 4 weeks after birth. There were no differences in DTI metrics between babies who had received LT4 supplementation and those who had received a placebo. Among recipients of a placebo, babies in the lowest quartile of plasma-free thyroxine (FT4) concentrations had significantly higher apparent diffusion coefficient measurements in the posterior corpus callosum and streamlines that were shorter and less numerous in the right internal capsule. Among LT4-supplemented babies, those who had plasma FT4 concentrations in the highest quartile had significantly lower apparent diffusion coefficient values in the left occipital lobe, higher fractional anisotropy in the anterior corpus callosum and longer and more numerous streamlines in the anterior corpus callosum. DTI variables were not associated with allocation of placebo or thyroid supplementation. Markers of poorly organised brain microstructure were associated with low plasma FT4 concentrations after birth. The findings suggest that plasma FT4 concentrations affect brain development in very immature infants and that the effect of LT4 supplementation for immature babies with low FT4 plasma concentrations warrants further study.

Selecting girls with precocious puberty for brain imaging: validation of European evidence-based diagnosis rule

The Journal of Pediatrics, 2003

To test the sensitivities of recently published American recommendations predicting occult intrac... more To test the sensitivities of recently published American recommendations predicting occult intracranial lesion (OICL) in girls with central precocious puberty (CPP), and to validate a previously derived diagnosis rule predicting OICL based on age at puberty onset and estradiol (E2) level. A retrospective, multicenter, hospital-based, cohort study was performed, including all girls with CPP seen in 7 centers in 6 European countries during given periods. American recommendations and the previously derived diagnosis rule were tested. Girls with CPP (n=443), including 35 with OICL, were recruited. American recommendations did not identify all OICL. Previously identified independent risk factors for OICL were confirmed: age &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;6 years (adjusted odds ratio 20.5; 95% CI, 8.1-52.1) and E2 &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;45th percentile (3.0; 95% CI, 1.3-7.1). The previously derived diagnosis rule had 100% sensitivity (95% CI, 90-100): all girls with OICL had either an age &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;6 years or an E2 level &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;45th percentile. The specificity was 39% (95% CI, 34-44). American recommendations do not seem safe to select European girls with CPP who require brain imaging. In settings where systematic brain imaging is not possible, the proposed diagnosis rule could safely help to avoid more than one third of unnecessary brain imaging.

Head circumference and linear growth during the first 3 years in treated congenital hypothyroidism in relation to aetiology and initial biochemical severity

Clinical Endocrinology, 2004

To determine the head circumference and linear growth in children with congenital hypothyroidism ... more To determine the head circumference and linear growth in children with congenital hypothyroidism (CH) during the first 3 years of life in relation to the aetiology of CH and initial biochemical severity of thyroid function. We examined the head circumference and linear growth of 125 patients with CH from diagnosis up to 3 years of age. All infants had radionuclide scans prior to treatment. Patients were categorized into athyreosis, ectopia and dyshormonogenesis. Occipito-frontal circumference (OFC) SD, length SD, initial plasma TSH, initial plasma thyroxine (T4) and age of suppression of plasma TSH were compared between the groups. Multiple linear regression analysis was used to determine factors affecting OFC SD at 3 years of age. There were 125 children in the study: athyreosis (n = 34), ectopia (n = 73) and dyshormonogenesis (n = 18). No difference was found in gestation, birth weight, age of starting L-T4 and initial dose of L-T4 in mcg/kg/day between groups. Confirmatory plasma total T4 at diagnosis was significantly lower for athyreosis when compared with ectopia and dyshormonogenesis. Median values for confirmatory TSH were significantly lower in dyshormonogenesis compared with the other two groups. At diagnosis, OFC were similar in all three groups. Children with athyreosis showed significantly larger OFCs compared with ectopia and dyshormonogenesis from 1 to 3 years. Length SD was within 1 SD of normal population standards at diagnosis and did not differ between the three groups throughout the 3 years. Spearman&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s correlation for OFC SD at 3 years of age showed a significant negative correlation with initial confirmatory plasma T4 (r = -0.35, P = 0.01). Multivariate analysis for OFC SD at 3 years of age showed confirmatory T4 as the only independent risk factor. Children with athyreosis showed significantly larger OFC from 1 to 3 years of age compared with ectopia and dyshormonogenesis, independent of linear growth. Our data shows that initial confirmatory T4 at diagnosis is an independent factor influencing head growth in the first 3 years of life.

Early morning salivary cortisol and cortisone, and adrenal responses to a simplified low‐dose short Synacthen test in children with asthma

Clinical Endocrinology, 2013

ObjectiveTo examine serum cortisol responses to a simplified low‐dose short Synacthen test (LDSST... more ObjectiveTo examine serum cortisol responses to a simplified low‐dose short Synacthen test (LDSST) in children treated with inhaled corticosteroids (ICS) for asthma and to compare these to early morning salivary cortisol (EMSC) and cortisone (EMSCn) levels.DesignEarly morning salivary cortisol and EMSCn samples were collected for three consecutive days. On day three, Synacthen 500 ng/1·73 m2 was administered intravenously. Samples were collected at 0, 15, 25, 35 min.ResultsA total of 269 subjects (160 M: 109 F), median (range) age 10·0 (5·1–15·2) years were studied. Peak cortisol in the LDSST was <500 nmol/l in 101 subjects (37·5%) and <350 nmol/l in 12 subjects (4·5%). Basal cortisol correlated with peak cortisol: r = 0·55, (95% CI: 0·46, 0·63, P < 0·0001). Time at which peak cortisol concentration was achieved was significantly related to the value of peak cortisol (P < 0·0001), with higher cortisol peaks occurring later in the test and lower cortisol peaks occurring e...

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