Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.

Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11 beta-hydroxylase deficiency (11βOHD), 3 beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17 hydroxylase deficiency and lipoid CAH may also be encountered in clinical practice. 11βOHD is the most common type of CAH after 21OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21OHD, findings of mineralocorticoid deficiency are not observed.

Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor.

Unlabelled: Testicular adrenal rest tumor (TART) is one of the important complications that can cause infertility in male patients with congenital adrenal hyperplasia (CAH) and should therefore be diagnosed and treated at an early age. The factors that result in TART in CAH have not been completely understood. The aim of this study is to evaluate the genotype-phenotype correlation in CAH patients with TART.

Evaluatıon of Pituıtary/Cranial imagıng results of central puberty precocıous cases.

Background: The activation of the gonadotropin-releasing hormone (GnRH) pulse generator before the age of 8 years in girls and 9 years in boys results in central precocious puberty (CPP). Previous studies have shown that the height of the pituitary gland in the CPP cases is higher than in the normal children.

Aim: In this study, ıt was aimed to evaluate the pituitary gland volüme by MRI in CPP children, and explore the intracranial lesions among children with CPP.

Sleep disorder and behavior problems in children with type 1 diabetes mellitus.

Objectives: To examine sleep and behavior problems in children with type 1 Diabetes Mellitus (T1DM) compared to nondiabetic controls in a bridging country between east and west and to evaluate the interaction of sleep on behavior problems, maternal sleep, and maternal depressive symptoms.

Methods: The study included children with T1DM (4-12 years old) and age/sex-matched healthy controls. Parents completed the Children Sleep Habits Questionnaire (CSHQ), Children Behavior Checklist/4-18 (CBCL/4-18), Pittsburgh Sleep Quality Index (PSQI), Beck Depression Inventory (BDI), and a study-specific sociodemographic questionnaire.

Relationship between Quantitative Sonographic Measurements and Serum Biochemical Parameters in Childhood Obesity.

Purpose: We investigated the relationship between sonographic measurements of fatty liver and body mass index standard deviation score (BMI-Z score), abdominal wall fat thickness (AWFT), and serum biochemical parameters in childhood obesity.

Methods: Anthropometric, laboratory, and ultrasonography data were obtained from 174 children with BMI-Z score >1. After the qualitative grading of hepatosteatosis (grades 0-3), the quantitative liver-kidney echogenicity ratio (LKER) was calculated using a software tool.

Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.

Background: Given the rarity of 11β-hydroxylase deficiency (11βOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11βOHD) and nonclassic 11βOHD (NC-11βOHD).

Objective: To characterize a multicenter pediatric cohort with 11βOHD.

Method: The clinical and biochemical characteristics were retrospectively retrieved.

Clitoromegaly caused by ovarian stimulation in a preterm newborn: ovarian hyperstimulation syndrome of preterm babies.

Background: Preterm ovarian hyperstimulation syndrome (POHS) is an uncommon disorder characterized by prematurity, hypogastric and upper leg swelling, high serum estradiol and gonadotropin levels, and ovarian cysts. Immaturity of the gonadal axis is accepted as the cause. But still, other etiological factors are suspected.

Assessment of academic performance of licensed athletes.

Objectives: Physical activity and sports can be used to reduce stress and anxiety by increasing aerobic capacity and muscle endurance, gain positive behavioral changes and improve their self-discipline, use time well, adopt positive lifestyle such as regular eating and sleeping, which will result in an increase in school success. There are no comprehensive study that examines the academic performance of licensed student athletes and the factors influencing their success rates. The aim of this study was to evaluate the academic performance and related factors in licensed athletes.

Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.

Context: Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations. Their clinical phenotype and disease progression have not been well characterized.

Evaluation of intraocular pressure and retinal nerve fiber layer, retinal ganglion cell, central macular thickness, and choroidal thickness using optical coherence tomography in obese children and healthy controls.

Objective: Obesity affects many organ systems. There have been few studies on the ophthalmological effects of obesity. The aim of the present study was to evaluate the changes in the ophthalmological parameters in obese children.

Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty.

Background: The aim of the study was to assess the response to growth hormone (GH) treatment in very young patients with GH deficiency (GHD) through a national, multi-center study. Possible factors affecting growth response were assessed (especially mini-puberty).

Methods: Medical reports of GHD patients in whom treatment was initiated between 0 and 3 years of age were retrospectively evaluated.

A case with atrophic autoimmune thyroiditis-related hypothyroidism causing multisystem involvement in early childhood.

The most common reason of acquired hypothyroidism is autoimmune (Hashimoto) thyroiditis. Autoimmune thyroiditis can be atrophic or goitrogenic. Atrophic autoimmune thyroiditis (ATT) related acquired hypothyroidism causes interruption of growth, obesity, and bone age retardation in early ages while goitrogenic thyroiditis has a higher incidence rate and mostly presents with diffuse goiter.

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management.

What has national screening program changed in cases with congenital hypothyroidism?

Objective: Since congenital hypothyroidism (CH) is the most important cause of preventable mental retardation, its screening is important. In this present study, it was aimed to evaluate congenital hypothyroidism cases before and after the initiation of screening program in year 2007 in our country.

Methods: A total of 400 patients diagnosed with CH at our outpatient clinic were retrospectively evaluated.

Long-term follow-up of Cushing's disease:a case report.

Cushing's disease is a condition in which hypercortisolism develops due to excessive hypophyseal adrenocorticotropic hormone production. It is rare in childhood. In this paper, we report the case of a 10-year-old male patient with hypophyseal microadenoma-related Cushing's disease who presented with obesity and was found to show poor height growth at follow-up.

Hyperinsulinemic hypoglycemia: experience in a series of 17 cases.

Objective: Hyperinsulinemic hypoglycemia (HIH) is a genetically heterogeneous disorder with both familial and sporadic variants. Patients with HIH may present during the neonatal period, infancy, or childhood and may show transient, prolonged, and persistent features. In this study, we aimed to discuss our experience with HIH patients, based on a series of 17 patients.

Prevalence of hyperthyrotropinemia in obese children before and after weight loss.

Background: Obesity is a worldwide epidemic. In recent years, increasing attention has been focused on thyroid function in obesity.

Objectives: To establish the prevalence of elevated thyroid-stimulating hormone (TSH) levels in obese children and adolescents, and identify the relationship between TSH levels and other metabolic and hormonal variables before and after weight reduction.

Thyroid nodules in children and adolescents: a single institution's experience.

Objective: The aims of this study were to analyze the role of fine-needle aspiration biopsy (FNAB) in the management of pediatric thyroid nodules and to analyze the malignancy risk of thyroid nodules by studying the association between autoimmune thyroiditis and thyroid cancer.

Methods: We conducted a retrospective study on 111 patients with thyroid nodules diagnosed in childhood or adolescence. FNAB was performed in 46 participants with thyroid nodules after ultrasonography (US).

Prevalence and long-term follow-up outcomes of testicular adrenal rest tumours in children and adolescent males with congenital adrenal hyperplasia.

Objective: There are a few studies regarding the prevalence of testicular adrenal rest tumours (TARTs) in boys and adolescent males with congenital adrenal hyperplasia (CAH), and there is little information regarding the treatment outcomes in patients with TARTs. The aim of this study was to determine the long-term treatment outcomes in boys and adolescent males with CAH.

Patients And Methods: Sixty boys and adolescent males with CAH, who were between 2 and 18 years of age, were included in the study.

Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.

The thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC 19A2 that encodes a thiamine transporter protein. The disease can manifest at any time between infancy and adolescence, and not all cardinal findings are present initially. The anemia typically improves significantly with pharmacological doses of thiamine.

Multiple pterygium syndrome: mimicking the findings of Turner syndrome.

Multiple pterygium syndrome (MPS or Escobar syndrome) is a rare, generally autosomal recessive disorder characterized by multiple congenital joint contractures and multiple skin webs. An 11.5-year-old girl with a working diagnosis of Turner syndrome (TS) was referred for her phenotypic features and growth retardation.

Iatrogenic Cushing syndrome due to nasal steroid drops.

Iatrogenic Cushing syndrome may occur as an undesirable outcome of high-dose glucocorticoids treatments. This may also cause hypothalamus-hypophysis-adrenal axis suppression. While this situation may be caused more frequently with oral and topical glucocorticoid therapy, iatrogenic Cushing syndrome in childhood, caused by steroid-containing nasal drops, is a rare event.

Does pseudohypoaldosteronism mask the diagnosis of congenital adrenal hyperplasia?

Hyponatremia and hyperpotassemia occurring in the first few weeks of life primarily indicate aldosterone deficiency due to salt-losing congenital adrenal hyperplasia (SL-CAH), while mineralocorticoid deficiency and insensitivity are the main causes of hyponatremia and hyperpotassemia in older infants. Some patients who present with vomiting and poor sucking, who have hyponatremia and hyperpotassemia and are initially diagnosed as CAH, during follow-up, are found to suffer from pseudohypoaldosteronism (PHA). This situation has been reported several times before.

Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene.

Neonatal hyperthyroidism is a rare disorder and occurs in two forms. An autoimmune form is associated with maternal Graves' disease, resulting from transplacental passage of maternal thyroid-stimulating antibodies and a nonautoimmune form is caused by gain of function mutations in the thyrotropin receptor (TSHR) gene. Thyrotoxicosis caused by germline mutations in the TSHR gene may lead to a variety of clinical consequences.