Endocrine Abstracts

Introduction: Langerhans cell histiocytosis (LCH) is a rare disease characterized by non-specific granulomatous deposits in many tissues. The hypothalamic-pituitary region is infiltrated in 5 to 50% of patients with LCH but most often in those with the multifocal form. Diabetes insipidus (DI), the most common hormonal abnormality, occurs in 15–50% of patients. Anterior pituitary deficiency occurs only in 5 to 20% of patients. We report the case of a patient with LCH who h...

Introduction: Short stature is a common manifestation of Noonan Syndrome (NS) that affects up to 70% of patients with this syndrome. We present 2 observations of NS associated with growth hormone (GH) deficiency.Observations: Case 1: A 7-year-old female patient was admitted for a growth delay (height at −4 SD and weight at -1 SD). On examination, she had a dysmorphic syndrome suggestive of NS: triangular face, hypertelorism, low-implanted ears, a w...

Introduction: Known to be ‘male Turner syndrome’, Noonan syndrome (NS) classically associates short stature, facial dysmorphism, and congenital heart disease. It is an autosomal dominant disease with an incidence of 1: 1,000 to 1: 2,500. We report 3 observations of NS.Observations: Case 1: A 7-year-old female patient was admitted for a growth delay. On examination, she had a dysmorphic syndrome suggestive of NS: facial dysmorphism with triangul...

Introduction: It is because of the heavy somatic and especially intellectual impact of congenital hypothyroidism that its systematic screening from birth has been proved to be essential. Numerous publications have already reported the considerable improvement in the prognosis of this condition but still few relate to adults. This preliminary work proposes to report the adult outcome in a cohort of 12 patients followed for congenital hypothyroidism.Patien...

Introduction: Congenital hypothyroidism is 30 times more frequent in newborns with Down syndrome (DS) than in the population of healthy children. Mild isolated TSH elevation with normal thyroxine (T4) levels is the most commonly seen pattern of thyroid dysfunction in these children.Patients and methods: A retrospective study was carried out on eleven patients with DS in the pediatric department of Mahdia who were followed for congenital hypothyroidism.</...

Introduction: Differentiation between mild Cushing’s syndrome (CS) and Pseudo-Cushing syndrome (PCS) can be extremely difficult. A Pseudo-Cushing state can be defined as a part or all of the clinical features that resemble a true CS with some evidence of hypercotisolism but the resolution of the underlying primitive state results in the disappearance of this Cushing state-like. The aim of this work was to describe the diagnostic difficulties of 24 cases of PCS.<p clas...

Introduction: Many problems hinder the diagnostic and therapeutic approach of growth hormone deficiency (GHD) in developing countries. The lack of early diagnosis and adequate treatment have adverse consequences, especially the small final height with the resulting psychological impact. Our study examined 40 cases of GHD who received treatment by recombinant human Growth Hormone (rhGH).Patients and methods: This is a retrospective longitudinal study of 4...

Introduction: GH deficiency (GHD) is a rare etiology of late growth. Its exact prevalence is unknown in emerging countries such as Tunisia. Despite a very suggestive clinical presentation, the diagnosis of GHD remains difficult and relatively late in some patients. Our study examined 40 cases of GHD in the Sahel region of Tunisia.Patients and methods: This is a retrospective longitudinal study of 40 cases of GHD collected in the pediatric department of M...

Introduction: Premature ovarian failure (POF) is defined as amenorrhea lasting more than four months before the age of 40 with a high level of gonadotropins in at least two separate samples. The aim of this work was to describe the etiological profile of a series of Tunisian women followed for POF.Patients and methods: It is a descriptive study of 42 cases of POF collected in the endocrinology department of Sousse between 2000 and 2017.<p class="abst...

Introduction: The therapeutic management of premature ovarian failure (POF) consists of a hormone replacement therapy that must be regular to avoid cardiovascular and bone complications as well as psychological management. The objective of this work was to study complications at 15 years of evolution of 42 tunisian women followed for POF.Patients and methods: It’s a retrospective study of 42 patients followed in the endocrinology department of Souss...