Characteristics and etiologies of short stature in children: Experience of an endocrine clinic in a Tunisian tertiary care hospital.

BACKGROUND: Short stature is a common reason for referral to pediatric endocrinology clinics. It may be a manifestation of a pathological condition requiring early treatment. The aim of this study was to describe the characteristics and etiologies of short stature among children referred to the pediatric endocrinology clinic of the main pediatric tertiary care center in Tunisia. METHODS: Retrospective and descriptive study in the endocrinology unit of children referred for short stature between January 2012 and December 2016. Data on the patients' medical history, physical findings, laboratory tests, bone age and chromosomal analysis were collected. RESULTS: 470 children (266 males and 204 females) were referred during that period. 214 (45.5%) had normal height, and 80.8% of them were referred by general practitioners. The other 256 children (54.5%) had a confirmed short stature (mean age :7.2 years, mean height: -2.77 SDS). Endocrinological causes were the most common(43% GHD, 4% hypothyroidism) followed by intrauterine growth retardation IUGR (24%), genetic syndromes (8.4%), chronic pediatric diseases (7.8%), skeletal dysplasia (6.2%), normal variant of short stature (5%), and psychosocial deprivation (1.2%). Among non-endocrine causes, Turner syndrome was the most common genetic syndrome (4.4%), achondroplasia the main skeletal dysplasia (4%) and celiac disease the main chronic disease (3.4%). CONCLUSIONS: ST is largely overestimated in our country. Therefore, it is important to insist on adequate measurement and analysis of growth parameters to avoid unnecessary investigations. GHD and IUGR were the most common causes. Celiac disease, though frequent in Tunisia, is not a common cause of short stature.

Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.

AIM: To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization. METHODS: All children with CF diagnosed by positive sweat tests between 1996 and 2015 in children's departments of Tunisian university hospitals were included. Data was recorded at diagnosis and during the follow-up from patients' medical records. RESULTS: In 12 departments, 123 CF children were collected. The median age at diagnosis was 5 months with a median diagnosis delay of 3 months. CF was revealed mostly by recurrent respiratory tract infections (69.9%), denutrition (55.2%), and/or chronic diarrhea (41.4%). The mean sweat chloride concentration was 110.9mmol/L. At least one mutation was found in 95 cases (77.2%). The most frequent mutations were Phe508del (n=58) and E1104X (n=15). Fifty-five patients had a Pseudomonas Aeruginosa chronic colonization at a median age of 30 months. Cirrhosis and diabetes appeared at a mean age of 5.5 and 12.5 years respectively in 4 patients each. Sixty-two patients died at a median age of 8 months. Phe508del mutation and hypotrophy were associated with death (p=0.002 and p<0.001, respectively). CONCLUSION: CF is life-shortening in Tunisia. Setting-up appropriate management is urgent.

Congenital hypothyroidism presenting with reversible renal impairment: an under-recognised problem?

BACKGROUND: Hypothyroidism with impairment of renal function and raised creatinine phosphokinase (CPK) is described in adults and children with acquired hypothyroidism, but not in congenital hypothyroidism. CASE PRESENTATION: A male infant born at term weighing 3390 g was seen aged 2 months with prolonged jaundice. Examination showed somnolence, umbilical hernia, enlarged fontanelles and lower limb edema; length 55 cm (-1.5 SD), weight 5.4 kg (-0.13 SD). Biochemistry showed fT4 < 1 pmol/L, TSH = 1044.36 µUI/mL, creatinine 77 µmol/L(normal <35 µmol/L), estimated glomerular filtration rate (GFR) 26 ml/min/1.73 m2, CPK 3952.5 IU/L (normal<400 IU/L). Ultrasound showed no thyroid tissue in the neck. In view of the renal impairment, peritoneal dialysis was initially contemplated but postponed and the child received levothyroxine 10 µg/kg/day. Two months later thyroid function tests, CPK and renal function had all normalized with creatinine 19 µmol/L and GFR 116 ml/min/1.73m2. DISCUSSION: Reversible renal impairment is attributable to severe congenital hypothyroidism causing decreased myocardial contractility and cardiac output and to a direct effect on the kidneys. Thyroid function should be checked in infants with renal impairment of unknown cause. Cautious fluid management is indicated in hypothyroid infants. Hypothyroidism may also be associated with elevated serum CPK levels but resolves with thyroxin therapy.

Primary immunodeficiencies : Report of 33 Pediatric Tunisian cases.

Background Primary immunodeficiencies (PID) are a group of heterogeneous and relatively rare diseases. Aim to determine the clinical characteristics, outcome and genetic data of primary immunodeficiencies in pediatrics patients. Methods A retrospective, descriptive and multicentered study, enrolling 33 children presenting a PID in Tunis, during a period of 22 years (1991-2012). Resultats a masculine predominance has been noticed with a sex ratio at 2,3. Consanguinity was found in 71% of family cases. History of early infant deaths was found in 42% of cases. The media age of diagnosis was of 1 year 2 months. The median diagnosis delay was of 11 months and 1/2. Most frenquently observed PID were combined immunodeficiency (36%), mostly severe combined immunodeficiency (SCID) (21%), followed by congenial defects of phagocyte function (33%), mostly chronic granulomatosis disease (21%). Antibody defects were found in 21% of cases. Most frequently observed out comes were lung infections (66%) recurrent oral thrush (57%) and diarrhea (42%). Most important complications were severe infections and bronchiectasis. 30% of patients were dead by the end of the study. A molecular characterization was performed in 33% of patients, and an antenatal diagnosis was performed in 10% of cases. Conclusion The PID are a group of disease with variable expressions and etiologies. Their frequency remains understimated in Tunisia, and their management, difficult and insufficient. We suggest the establishment of systematic genetic consulting visit, the creation of a national registry and developing bone marrow transplantation in children in Tunisia.

[Infantile hypertrophic pyloric stenosis. Report of 142 cases]. / La sténose hypertrophique du pylore du nourrisson: a propos de 142 cas.

BACKGROUND: Hypertrophic pyloric stenosis (HPS) is a common condition affecting infants before the first three months of life. AIM: Analysis of our results and comparison with literature to determine particularities of HPS in our country. METHODS: We conducted a retrospective review of 142 patients presenting HPS, between 1990 and 2003. RESULTS: In this study male sex was predominant, with a sex-ratio of 3.8/1. The classical symptom of projectile vomiting was always present, a pyloric tumor was palpated in 19.7% of the cases, metabolic disturbance was noted in 44.3% of patients. The diagnosis was confirmed by ultrasonography and sometimes contrast upper gastrointestinal study. All the infants were treated surgically unless three patients dying before operation, because of a late diagnosis. Postoperative courses were uneventful in 87.4% of cases. Three patients were dead after operation, because of medical complication. CONCLUSION: The cause of HPS is unknown. The diagnosis is suggested by clinic features and confirmed by imaging. Early diagnosis prevents from metabolic complications due to vomiting. Surgical treatment allows early feeding and is associated with a low complication rate and a good long-term outcome.

Prevalence and severity of asthma, allergic rhinoconjunctivitis and atopic eczema in "Grand Tunis" schoolchildren: ISAAC.

The aim of this study was to assess the prevalence and severity of asthma, allergic rhinoconjunctivitis and atopic eczema in 13-14 year old children living in "Grand Tunis". Using the international study of asthma and allergies in childhood (ISAAC) questionnaire, 3350 schoolchildren aged 13-14 years, from the Grand Tunis (Ariana, Ben Arous, Manouba, Tunis) were studied. Our results showed that in the past year 13.2% of children had wheezed, 1.4% had more than 12 attacks and 4.3% had experienced a speech limiting attack. 29.7% had symptoms of allergic rhinoconjunctivitis and 8.3% atopic eczema. The classic preponderance of asthma in boys has not been retrieved in our study. The highest level of wheeze was found in an agricultural area. According the published data, asthma prevalence in Tunisian schoolchildren is intermediate and allergic diseases are perhaps a common childhood diseases in Tunisia.