ESPE Abstracts

Introduction: Steroidogenic factor-1 (SF1/NR5A1) is a nuclear receptor, which regulates genes that have functions in the development of adrenal glands and gonads, reproduction, and other metabolic functions.Case presentation: A 20-day-old infant was admitted due to ambiguous genitalia. Physical examination revealed a 2×1 cm phallus, bifid scrotum, and hypospadias. Both gonads were palpable in the inguinal canal. Serum levels of adrenal androgens (17...

Background: Androgen insensitivity syndrome is the most common cause of 46,XY disorders of sex development. This condition is inherited in an x-linked recessive pattern and the most common causes are inactivating mutations in the androgen receptor (AR) gene.Objective and hypotheses: In this study, we report a novel AR gene mutation in an adolescent patient presenting with primary amenorrhea.Method: A 16-year-old p...

Introduction: Resistance to thyroid hormones is defined as lack of response of peripheral tissues to triiodothyronine (T3) which is the active form of thyroid hormones. In general (85%) a mutation is detected in the thyroid hormone receptor β (THRB) gene and more rarely, the thyroid hormone receptor α (TRHA) gene.Case: A 4.7-year-old boy, was admitted to the pediatric endocrinology outpatient clinic of Akdeniz...

Introduction: Craniopharyngioma is a low malignant potential tumor of embryological origin of the sellar/suprasellar region. It occurs with various symptoms and signs such as headache, vomiting, vision loss and endocrinological disorders. It was aimed to evaluate the presentation findings and endocrinological disorders in the follow-up in childhood craniopharyngioma cases.Methods: The patients followed up with the diagno...

Introduction: The most common congenital malformations of the scrotum are bifid scrotum, penoscrotal transposition, and ectopic scrotum. Scrotal agenesis is a very rare congenital anomaly characterized by the absence of scrotal rugae in the perineal tissue between the penis and anus. To date, 9 cases with complete scrotal agenesis have been described in the literature. Here, a case with complete scrotal agenesis with MAB21L1 homozygous mutation is presented to...

Objective: We aimed to evaluate the relation between the peak growth hormone (GH) levels on provocative tests and response to recombinant human GH (rhGH) therapy in patients with GH deficiency (GHD).Methods: This was a cross-sectional, single-center, and retrospective study. A total of 518 patients who received rhGH therapy under the age of 16 in the Endocrinology Clinic of Akdeniz University Hospital between 1997 and 20...

Objective: We aimed to examine the auxological findings of the girls diagnosed with idiopathic central precocious puberty (CPP) at the end of the Gonadotropin-releasing hormone analogs (GnRHa) treatment and to investigate the effect of related factors on the height gain of those patients.Methods: This study was designed as single-center, descriptive, cross-sectional retrospective study. A total of 43 patients who were di...

Background: Cigarette contains more than 4,000 toxins and is suspected of having endocrine-disrupting properties. Anogenital distance (AGD) is an important biomarker of fetal androgen exposure and intrauterine masculinization. There are limited number of studies examining whether AGD is affected by prenatal smoke-exposure. The aim of this study is to investigate the effects of maternal smoking during pregnancy on newborn infants' AGD.<p class="abstext"...

Background: Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia (ITLCHSCN) resulting from Sertoli cells of the testis are mainly reported in young adults and these are rarely seen in childhood.Objective and hypotheses: In this case report, an eight-and-a-half-year old case presenting with complaint of bilateral gynecomastia since two years, showing no endocrine abnormality in laboratory during 2-years of follow-up, determined to have progression i...

Objective: Secondary osteoporosis has a high rate of accompanying chronic diseases. We aimed to review the clinical and laboratory features, underlying causes, Dual Energy X-ray Absorptiometry (DEXA) results before and after treatment of patients diagnosed with secondary osteoporosis and to determine the relationship between this condition and fracture rates.Methods: This study was designed as a single-center, descriptiv...