Abdelhadi Habeb - Academia.edu (original) (raw)

Papers by Abdelhadi Habeb

American Journal of Biomedical Science & Research, 2019

This work is licensed under Creative Commons Attribution 4.0 License AJBSR.MS.ID.000678

Endocrine Practice, Dec 1, 2022

Journal of Pediatric Endocrinology and Metabolism

Objectives There are some variations in the practice of puberty induction between different regio... more Objectives There are some variations in the practice of puberty induction between different regions; however, data from Arab countries are lacking. We aimed to survey the practice of pediatric endocrinologists in Arab countries on the timing and regimen for puberty induction in girls and boys with hypogonadism. Methods An online questionnaire was emailed to physicians registered in the Arab Society for Paediatric Endocrinology and Diabetes. Results In total, 106 replies from 17 countries were received. In non Turner syndrome (TS) girls, puberty was induced by 49.4% of participants at 12–13 years and by 32.5% at ≥14 years. Ethinyl estradiol and conjugated estrogen were the most popular preparations used (29.7 and 16.6%, respectively). Of the participants, 60% introduce progesterone either at 2–3 years after starting estrogen or following a significant breakthrough bleeding on estrogen. In girls with TS, 84.2% of participants prescribed estrogen to those aged 11 years and older (51.5...

Monogenic diabetes is a rare condition resulting from mutations in a single gene. In contrast, th... more Monogenic diabetes is a rare condition resulting from mutations in a single gene. In contrast, the most common types of diabetes, we encounter are type 1 and type 2, caused by multiple genes. The rising epidemic of childhood obesity cases and recent advances in molecular genetics has led to the identification of children with gene defects. With the increase in the survival rate of children with cancer and other chronic illnesses cases of secondary diabetes have become more prevalent. The importance of making the correct classification of childhood diabetes are numerous: It could guide the best treatment for diabetes, define the diagnosis in other family members and explain other associated features. However, if not certain it is safer to treat any child with diabetes as type 1. The presentation will explore when type 1 diabetes is unlikely and provide clinical examples of different forms of non-type 1 diabetes with more focus on monogenic diabetes. Genetics Related Obesity and Diabe...

Endocrinology, Diabetes & Metabolism Case Reports, 2021

Summary The use of antihypertensive medications in patients with pheochromocytomas and paragangli... more Summary The use of antihypertensive medications in patients with pheochromocytomas and paragangliomas (PCC/PG) is usually a challenge. We report a case of familial paraganglioma that was successfully treated by esmolol and other antihypertensive medications without associated perioperative complications. Our patient was an 11-year-old girl who presented with classic symptoms and signs of PCC/PG and a CT scan of the abdomen that showed a right-sided paravertebral mass. Her father was diagnosed with paraganglioma a few years ago. Prazosin had been started but she continued to experience uncontrolled paroxysms of blood pressure (BP). She was known to have asthma; hence, she developed serious bronchospasm with atenolol. She was, therefore, switched to esmolol that successfully controlled her BP in addition to prazosin and intermittent doses of hydralazine prior to laparoscopic surgery with no side effects of medications or postoperative complications. Esmolol could be a good alternative...

Archives of Osteoporosis, 2021

Introduction X-linked hypophosphatemia (XLH) is a rare inherited cause of hypophosphatemic ricket... more Introduction X-linked hypophosphatemia (XLH) is a rare inherited cause of hypophosphatemic rickets and osteomalacia. It is caused by mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX). This results in increased plasma fibroblast growth factor-23 (FGF23), which leads to loss of renal sodium-phosphate co-transporter expression leading to chronic renal phosphate excretion. It also leads to low serum 1,25-dihydroxyvitamin D (1,25(OH)2D), resulting in impaired intestinal phosphate absorption. Chronic hypophosphatemia in XLH leads to impaired endochondral mineralization of the growth plates of long bones with bony deformities. XLH in children and adolescents also causes impaired growth, myopathy, bone pain, and dental abscesses. XLH is the most frequent inherited cause of phosphopenic rickets/osteomalacia. Hypophosphatemia is also found in calcipenic rickets/osteomalacia as a result of secondary hyperparathyroidism. Thus, chronic hypophosphatemia is a common etio...

Cureus, 2021

Testosterone is the main agent used to induce puberty in boys in Arab countries. It is recommende... more Testosterone is the main agent used to induce puberty in boys in Arab countries. It is recommended to monitor haematocrit before and during androgen replacement. However, data from single centre studies indicated that this recommendation is rarely practiced by paediatricians compared to adult physicians. The aim of this study is to evaluate the monitoring of haematocrit of patients on Testosterone therapy by paediatric endocrinologists practicing in Arab countries. Methods A cross-sectional study using an online survey that was sent to all members of the Arab Society for Paediatric Endocrinology and Diabetes (ASPED), who they practice in all Arab countries. The study was carried out between July and October 2019. Ethical approval was granted by ASPED council in May 2019 (MRE2019-02Q). Results One hundred four physicians responded to the survey from 17 countries. 81/104 (77.8%) answered the question about Testosterone monitoring (42 paediatric endocrinologists, 11 general paediatrician consultants with interest in endocrine, 16 specialists, four fellows and eight residents). Of the 81 responders 18 clinicians (22.2%) thought of monitoring the haematocrit; 15 (18.5%) thought no laboratory monitoring is needed at all. Conclusion The survey indicated that most paediatric endocrinologists in Arab countries do not monitor haematocrit in patients on testosterone replacement and majority are not aware that secondary erythrocytosis can result from androgen therapy. Raising the awareness on monitoring haematocrit during androgen replacement therapy is needed especially when reaching the adult dose.

Journal of Pediatric Genetics, 2020

X-linked hypophosphatemic rickets (XLHR) is a genetic disease caused by inactivating pathogenic v... more X-linked hypophosphatemic rickets (XLHR) is a genetic disease caused by inactivating pathogenic variants in PHEX, which results in reduced mineralization of bone, teeth, and renal phosphate wasting. XLHR is traditionally treated by phosphate and vitamin D analogs. Recently, burosumab, a recombinant anti-fibroblast growth factor-23 (FGF-23) monoclonal antibody was approved as specific XLHR therapy. We aimed to assess the awareness, knowledge, and management of XLHR among members of the Arab Society for Pediatric Endocrinology and Diabetes (ASPED). Of the 97 physicians who answered the online questionnaire, 97% were aware of XLHR, and while 90% screen family members of the index case, only 29% manage children with XLHR. In children with rickets, 40% of participants measure serum/urine phosphate routinely, and 31% request serum FGF-23 in suspected XLHR cases. Almost all responders use conventional XLHR therapy, and 4% used Burosomab. Only 14% were satisfied with the conventional treatm...

PurposeInducing puberty in hypogonadal patients enables achieving normal final adult height, heal... more PurposeInducing puberty in hypogonadal patients enables achieving normal final adult height, healthy bone mass accrual and improves fertility potential. Reliable availability and access to medicines remain a challenge around the world, particularly in low income countries. We aim to study the availability/access to medications used for inducing and maintaining puberty in centers within the Arab region.Patients and MethodsA cross-sectional survey was conducted using a link to an online questionnaire which was emailed to paediatric endocrinologists in the Arab region. The questionnaire consisted of three questions related to availability of various forms of sex hormones.Results99 physicians from 16 countries participated in the study. The commonest available form of estrogen was conjugated estrogen (29% of centers) followed by ethinylestradiol in 26%. Depot estradiol was available in 11centers while topical estrogen preparations of gel and patches were available in 6 and 10 centers re...

Diabetes Research and Clinical Practice, 2020

To ascertain the awareness and practice of neonatal diabetes mellitus (NDM) among paediatricians ... more To ascertain the awareness and practice of neonatal diabetes mellitus (NDM) among paediatricians in Arab countries. Methods: An online questionnaire was distributed to physicians associated with the Arab Society for Paediatric Endocrinology and Diabetes (ASPED). Results: We received 126 replies, from 16 countries. All except one classified the survey's case scenario as NDM and 94% agreed that NDM patients should have detailed assessment to identify extra-pancreatic features. Although 92% felt that genetic testing is necessary, only 72% requesting them routinely and 32% unaware of the availability of free genetic testing. Insulin is considered the initial therapy for 93% and 80% diluted insulin to deliver accurate doses. Basal-bolus regimen was preferred by 36% and similar percentage used insulin pump. The remaining 28% favour long acting insulin alone. Oral sulfonylureas would be tried empirically by 34% and 69% would do so if genetic testing is unavailable. Whilst 70% have no local NDM management guidelines, 41% are unaware of any international guidelines. Conclusions: The ASPED surveyed clinicians have good awareness of NDM diagnosis with marked variation in their practice raising the need to establish management guideline for the condition. The survey highlights areas to focus on in developing consensus and educational activities.

Libyan Journal of Medicine, 2019

Ibnosina Journal of Medicine and Biomedical Sciences, 2019

Although children in general and patients with type 1 diabetes mellitus, in particular, are exemp... more Although children in general and patients with type 1 diabetes mellitus, in particular, are exempted from fasting during Ramadan, many elect to observe the fast. There is a sizeable amount of opinion and research data that warrants revisiting. This is a narrative nonsystematic review to explore the views and supporting data on Ramadan fasting and to examine the safety of fasting and its impact on diabetes control and management in children and adolescents. The key areas covered include epidemiology, the physiology of fasting, risk stratification, counseling strategy, nutrition advice, insulin therapy adjustment with a particular focus on multiple injection regimen, and insulin pump therapy. Findings from various studies and expert opinions were appraised and presented to illustrate points of agreements and differences. This review should enhance knowledge and form the basis to clear some doubts and differences of opinions surrounding the issue of diabetes and Ramadan fasting in youn...

Ibnosina Journal of Medicine and Biomedical Sciences, 2010

Ibnosina Journal of Medicine and Biomedical Sciences, 2015

The scientific program of the conference featured 62 oral and 84 poster presentations. Diabetes w... more The scientific program of the conference featured 62 oral and 84 poster presentations. Diabetes was the topic most heavily presented due to its widespread prevalence and unique features in our region. Milestones in diabetes care, diabetes education, epidemiology, updates in neonatal diabetes and hyperinsulinemic hypoglycemia as well as insulin resistance and type 2 diabetes mellitus were among the topics discussed by leading world-renown authorities as well as by regional experts. Diabetes technology was a particularly hot topic in the meeting featuring 2 symposia on the recent advances in artificial pancreas and regional experience with insulin pumps and continuous glucose monitoring systems. Experience pertinent to diabetes and fasting was elegantly presented by regional experts. The meeting also featured workshops dedicated to diabetes educators and stimulating discussions with behavioral psychologists. Growth disorders were presented in different formats of plenary, “Meet the Ex...

Ibnosina Journal of Medicine and Biomedical Sciences, 2017

Background: Physicians play a role in informing patients’ choices to fast or not and also in educ... more Background: Physicians play a role in informing patients’ choices to fast or not and also in education and support of those diabetic patients who choose to observe the Ramadan fast. Objectives: To ascertain physicians’ knowledge, attitudes, and practices regarding practical management of diabetes during Ramadan. Subjects and Methods: A cross-sectional Internet-based survey of a convenience sample of physicians, mostly practicing in UAE, was included. The survey questionnaire was developed de novo to address the objectives of this exercise. Responses were collected completely anonymously and were summarized using descriptive statistics. We report here the responses from 236 physicians who submitted adequately completed questionnaires. Results: General management knowledge varied widely. Over 90% recognized the importance of Ramadan-focused education, 75.1% valued the importance of glycemic control at night time, and 71.2% were aware of the exemption of T1DM. 69.0% were familiar with ...

Journal of the Endocrine Society, 2017

Resistance to thyroid hormone b (RTHb) due to homozygous THRB defects is exceptionally rare, with... more Resistance to thyroid hormone b (RTHb) due to homozygous THRB defects is exceptionally rare, with only five kindreds reported worldwide. Cardiac dysfunction, which can be life-threatening, is recognized in the disorder. Here we describe the clinical, metabolic, ophthalmic, and cardiac findings in a 9-year-old boy harboring a biallelic THRB mutation (R243Q), along with biochemical, physiologic, and cardiac responses to carbimazole and triiodothyroacetic acid (TRIAC) therapy. The patient exhibits recognized features (goiter, nonsuppressed thyroid-stimulating hormone levels, upper respiratory tract infections, hyperactivity, low body mass index) of heterozygous RTHb, with additional characteristics (dysmorphic facies, winging of scapulae) and more markedly elevated thyroid hormone levels, associated with the homozygous form of the disorder. Notably, an older sibling with similar clinical features and probable homozygous RTHb had died of cardiac failure at age 13 years. Features of early dilated cardiomyopathy in our patient prompted combination treatment with carbimazole and TRIAC. Careful titration of therapy limited elevation in TSH levels and associated increase in thyroid volume. Subsequently, sustained reduction in thyroid hormones with normal TSH levels was reflected in lower basal metabolic rate, gain of lean body mass, and improved growth and cardiac function. A combination of antithyroid drug and TRIAC therapy may prevent thyrotoxic cardiomyopathy and its

The Journal of Clinical Endocrinology & Metabolism, 2016

Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism ... more Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken. Objective: Our objective was to evaluate the contribution and molecular spectrum of mutations in eight known causative genes (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD, and TSHR) in CH cases with GIS. Patients, Design, and Setting: We screened 49 CH cases with GIS from 34 ethnically diverse families, using next-generation sequencing. Pathogenicity of novel mutations was assessed in silico. Results: Twenty-nine cases harbored likely disease-causing mutations. Monogenic defects (19 cases) most commonly involved TG (12), TPO (four), DUOX2 (two), and TSHR (one). Ten cases harbored triallelic (digenic) mutations: TG and TPO (one); SLC26A4 and TPO (three), and DUOX2 and TG (six cases). Novel variants overall included 15 TG, six TPO, and three DUOX2 mutations. Genetic basis was not ascertained in 20 patients, including 14 familial cases. Conclusions: The etiology of CH with GIS remains elusive, with only 59% attributable to mutations in TSHR or known dyshormonogenesis-associated genes in a cohort enriched for familial cases. Biallelic TG or TPO mutations most commonly underlie severe CH. Triallelic defects are frequent, mandating future segregation studies in larger kindreds to assess their contribution to variable phenotype. A high proportion (ϳ41%) of unsolved or ambiguous cases suggests novel genetic etiologies that remain to be elucidated.

Saudi Medical Journal, 2016

Objectives: To to define the frequency and patterns of congenital heart disease (CHD) among child... more Objectives: To to define the frequency and patterns of congenital heart disease (CHD) among children with Down syndrome (DS) in Northwest Saudi Arabia. Methods: We included children with confirmed DS referred to the regional pediatric cardiology.

American Journal of Medical Genetics Part A, 2016

This is a repository copy of An emerging, recognizable facial phenotype in association with mutat... more This is a repository copy of An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).

Endocrine Abstracts, 2015