ESPE Abstracts

Background: Steroidogenic factor-1 (SF1) is a nuclear receptor transcription factor that plays a crucial role in regulating the adrenal, gonadal, splenic development, steroidogenesis and reproduction.Objective: To describe a Chinese 46,XY female with sex reversal, primary adrenal insufficiency and congenital splenic dysplasia harboring a novel de novo heterozygous deletion in NR5A1 gene.<p class="ab...

Introduction: 45,X/46,XY mosaicism is rare difference/disorder of sex development(DSD) with an incidence of 1.7 per 10,000 newborns. Children with this type of DSD have varying phenotype of internal and external genitalia/ gonads, Turner-like features and increased risk of gonadal malignancy posing great clinical challenge.Case presentation: A 13-year-old girl was referred for primary amenorrhea. She had been investigate...

This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland China. Additionally, we provide a comprehensive review of the existing literature concerning CAIS with MDRs resulting from androgen receptor (AR) gene mutations. This study broadens the clinical spectrum of CAIS and offer novel insights for further exploration into Müllerian duct regression. A 14-...

Background: Primary ovarian insufficiency (POI) manifests with delayed puberty, primary amenorrhea, and elevated levels of gonadotropins (LH, FSH). A variability in genetic factors in the origin of POI has been reported so far. Here we are reporting a case of POI with non-immune diabetes mellitus and mild intellectual disability suspected to have Woodhouse-Sakati Syndrome.Case presentation: A 14 year and 4 months old ado...

Introduction: Clitoral hypertophy can be congenital or acquired, and is usually associated with prenatal and/or postnatal exposure to androgens. Pathophysiological mechanisms responsible for transient hypertophy of the clitoris in female infants born extremely prematurely have not been fully elucidated.Case report: We present the case of an extremely premature female infant, born at 27+5 weeks of gestation, wi...

Disorders of sexual development can be suspected from birth if there is genital ambiguity, but sometimes the diagnosis in girls is made at puberty due to lack of pubertal development or primary amenorrhea. Making the correct diagnosis has its relevance in sexual identity, in the initiation of the correct hormone replacement therapy and in its possible association with malignant gonadal tumors. We describe 2 cases with unusual presentation of girls with female phenotype and 46X...

A child with ambiguous genitalia (Prader IV) was born at term from non-consanguineous parents. Otherwise, medical history was normal. Penile length was < 1.5 cm with penoscrotal hypospadia. Testes were inguinal and < 0.5ml. Karyotype was XY and analysis of gonadal and adrenal steroids by TMS showed undetectable testosterone and dihydrotestosterone (DHT) and normal adrenal steroids. Testosterone and DHT rose spontaneously during “Minipuberty” at 1.5 month and ...

Objective: Treacher Collins syndrome (TCS) is rare autosomal dominant genetic condition characterized by the following features of the head and face: absence of the ears, down-slanting palpebral fissures, eyelid colobomas, microtia, bilateral choanal atresia and etc. Prevalence of TCS is from 1 per 25,000 to 1 in 50,000 live births. Most of TCS patients don’t have endocrine disorders that is why endocrinologists are not familiar with this condit...

Introduction: Congenital Adrenal Hyperplasia (CAH) encompasses a spectrum of genetic disorders resulting from enzyme deficiencies that impair adrenal steroidogenesis. The most common forms are due to 21-hydroxylase and 11-beta-hydroxylase deficiencies, each presenting with distinct clinical and hormonal profiles.Aim: This study aims to compare the clinical presentations and laboratory findings in Egyptian pediatric patie...

Background: Congenital Adrenal Hyperplasia (CAH) is characterized by various enzyme deficiencies, notably 11-Beta-Hydroxylase Deficiency (11OHD) and 21-Hydroxylase Deficiency (21OHD), each affecting growth and hormonal levels differently. This study aim ed to compare the anthropometric and hormonal profiles of pediatric patients affected by these two conditions.Methods: The clinical records of pediatric patients diagnose...

A 6 year and 11 month -old girl of a Consanguineous parent. Her family history : has 2 sibling deaths in the neonatal period. her perinatal history :C/S, full term, NICU admission on the 5th day of birth due to vomiting and had generalized hyperpigmentation (external genitalia and skin with No atypical genitalia, her labs revealed hypoglycemia, hyponatremia and hyperkalemia, and her hormonal profile revealed sky high ACTH 2745 pg/ml (N.7.2-63.3 pg/ml), low cortisol 2 ug/dl (N....

Background: Hypogonadotorpic hypogonadism is a heterogeneous disease which is often accompanied by a variety of non-reproductive congenital phenotypes such as anosmia, synkinesia, deafness, renal or limbs malformations. The combination of hypogonadotropic hypogonadism with congenital defects is crucial to early diagnosis.Result: Our patient is a 13,5-year-old boy. He was born at 39-40 weeks of gestation, birth length was...

Aim of the work: to study 21-CYP mutations on the development of premature adrenarche in girls of Uzbek nationalityMaterials and Methods: We conducted a comparative analysis of the effect of 21-CYP mutations on the clinical symptoms of pathology and the hormonal status of girls with PA. In this regard, the girls were divided into 2 groups: group 1 consisted of 36 girls in whom the 21-CYP mutation was not identified, grou...

Delayed puberty is a common condition defined as the lack of sexual maturation by an age ≥ 2 sd above the population mean.Materials and Methods: to study the structure of the delayed puberty (DP), 96 medical records of patients who were examined in the endocrinology department between 2020 and 2024 were selected: 77 boys (14.8 &pm; 1.23 years), 19 girls (14.5 &pm; 2.03 years) by querying the electronic information system of the medica...

Objective: This study aims to investigate the cause of cryptorchidism in a young boy.Case report: A 12 years old boy was admitted at our department for fever and lack of appetite. During physical examination, right cryptorchidism and subcoronal hypospadias were evident. Left testicle was in scrotum and it was of 4 ml in volume. In his past clinical history, he had many urological evaluations for the right testicle and sp...

Introduction: Peutz-Jeghers syndrome (PJS) is a disorder characterized by autosomal dominant inheritance, hamartomatous polyps in the gastrointestinal system, mucocutaneous pigmentation, and a predisposition to malignancies, caused by mutations in the STK11 gene. In male patients, large cell calcifying Sertoli cell tumors associated with prepubertal gynecomastia can be observed. We present a case of prepubertal gynecomastia that led to a diagnosis of PJS durin...

Aphallia is a very rare congenital anomaly of urogenital tractus, it's rarely described, only hundred cases are reported in world literature. We report a case of A.B 2 months old who presents an aphallia in male with well developed testicles, the urethral meatus is opening to the anterior wall of the anal sphincter, ultrasound examination showed the absence of the penis and the corpora cavernosa, confirmed by the magnetic imaging. The radiological explorations of digestiv...

Background: Secondary amenorrhoea occurs in approximately 8% of adolescent females. Ovarian and adrenal tumours are rare causes of secondary amenorrhoea. Ovarian Sertoli-Leydig cell tumours (SLCT) are rare sex-cord stromal tumours of the ovary, accounting for <0.5% of all primary ovarian neoplasms. SLCTs affect all age groups, 75% detected in second and third decade of life (mean age 25 years) and <10% detected following menopause. Testicular-like tumour...

Introduction: Swyer syndrome is a rare disorder of sexual differentiation with a primary amenorrhea resulting from gonadal dysgenesis. It is characterized by the presence of normal female phenotype with 46 XY caryotype. Females with Swyer syndrome have female external genital organs, and streak gonads that should be removed due to their high malignization potential. Instead of gonads, girls with Swyer syndrome have “gonadal streaks”, in which the o...

Precocious puberty is the early development of secondary sexual characteristics occurring before the age of 9 in males. It is a rare condition affecting male individuals with only 41 reported cases in the Philippine Pediatric Society (PPS) Registry since 2006 and the first case to be reported in Region I. This is a case of a 4-year-old male, diagnosed with central precocious puberty (CPP) who presented with tall stature and early secondary sexual characteristics manifested as ...