ESPE Abstracts

Introduction: Beta thalassemia major (βTM) is an autosomal recessive anemia characterized by a defect in the production of the β-globin chain of hemoglobin. There may be endocrine problems secondary to hemochromatosis in the clinical follow-up of the patients. Here, a case who was followed up with the diagnosis of βTM, consulted for primary amenorrhea and diagnosed with 5-alpha reductase deficiency (5ARD) is presented and clinical follow-up expe...

The proband is a Caucasian girl with primary amenorrhea and no breast development at the age of 16 11/12 yrs. Unrelated parents; an older brother in good health and a twin brother (GA 31 days; BW 1450g) with reported agenesis of the corpus callosum and socio-emotional behavioral problems. The mother (menarche 14 yrs. and bicornuate uterus) presented four early spontaneous abortions and one stillborn fetus (46, XX) in the 6th month of pregnancy; remaining negative family histor...

Introduction: A 12-year-old girl has been accepted in our emergency room for persistent abdominal pain associated with nausea, dysuria and difficulty walking. Abdominal pain is localized on the left side and is acute, stabbing, intermittent and non radiating. The menstrual cycle is normal, both in duration and intensity. Family history does not reveal a significant background. The girl is apyretic with normal vital parameters. The abdomen appears expanded and ...

Introduction: Premature ovarian failure (POF) is defined as a heterogeneous disease leading to amenorrhea and ovarian failure before the age of 40 years. It is found in 1-3% of women of reproductive age, with some negative consequences such as cardiovascular disease, osteoporosis and sexual dysfunction. Triple X syndrome is characterized by POF with primary or secondary amenorrhea, tall stature, large feet. Girls with triple X syndrome show accelerated growth ...

Disorders of sex development (DSD) comprise a heterogeneous group of conditions involving interference with normal sex differentiation and hormonal production in the embryo resulting in relatively rare conditions having diverse pathophysiology. The aim of the current work is to study the clinical characteristics and testicular function of patients with 46 XY DSD. A cross-sectional study was done included children with initial presentation of atypical genitalia and satisfied th...

Background: Precocious puberty is common in boys occasionally in girls with beta human chorionic gonadotropin (β-hCG)-secreting intracranial tumors, and is reported to be peripheral precocious puberty exclusively.Object: To described a girl with intracranial β-hCG-secreting germ cell tumor（GCT） who presented with central precocious puberty（CPP）.Method:<...

Aim of the Study: ADAM/ADAMTS family members encode extracellular, multidomain proteolytic enzymes. Mutant Adamts16 mice display cryptorchidism and sterility. We hypothesize that gonadotropin-regulated ADAM/ADAMTS genes are involved in testicular development during mini-puberty.Patients and Methods: Testicular biopsies for histological and RNA-Sequencing analysis from bilateral cryptorchid boys were analyzed. RNA samples...

Background: POR deficiency is a rare form of congenital adrenal hyperplasia, transmitted in an autosomal recessive trait, that is characterized by ambiguous genitalia, impaired steroidogenesis and skeletal malformations similar to those of Antley-Bixler syndrome. It is caused by mutations in the P450 oxidoreductase gene (POR), an electron donor for all microsomal P450 enzymes including the three steroidogenic enzymes P450c 17 (17 alfa-hidroxylase /17,20 lyase)...

Aim of the Study: Cryptorchidism occurs more frequently in CF-children, and malformed epididymis was found more in cryptorchid boys with abrogated mini-puberty. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is transporter protein that acts as a chloride channel. Specifically, CFTR is associated with spermatogenesis and fertility.Patients and Methods: Testicular biopsies for histological and RNA analysis from...

Objective of the research: To compare clinical laboratory and genitometric parameters in girls with hypogonadotropic hypogonadism (HH) and constitutional delayed puberty (CDP).Materials and Methods: 23 female patients with delayed puberty are included in the study.Inclusion criteria: Absence of secondary sexual characteristics at age ≥13 years or absence of menarche at age ≥1...

Primary ovarian insufficiency (POI) affects about 1% of females under 40 and represents a major cause of female infertility. Approximately one third of POI are of genetic in origin, including FMR1 premutation, Turner syndrome and approximately 60 other genes, involved in development, hormonal signaling, cell division and survival, immunity, and metabolism. MCM8 is a recently discovered gene that plays an important role in homologous recombination and DNA repair and only up to ...

Background: The incidence of Disorders of sex development (DSD) in Egypt was reported to be 1 in 3,000 live births. Late diagnosis, severe salt wasting with high morbidity and mortality, and inappropriate sex -assignment are challenging problems that constitute medical and social emergencies. Serum Anti Mullerian Hormone (AMH) and Inhibin B levels are possible tools for assessment of Sertoli cell function that can help early diagnosis of patients with suspecte...

The majority of patients with Variations of Sex Development (VSD) lack a genetic diagnosis. Patients that are born with atypical chromosomal, gonadal, or phenotypical sex, present a wide spectrum of phenotypes that are often associated with ambiguous genitalia, infertility as well as increased susceptibility to testicular or ovarian cancer. Many different genetic causes of VSD have been reported [2], but for more than 50% [3] of all VSD patients, the molecular cause of their c...

Background: Clinical spectrum of 46 XY DSD is characterized by a greatest diversity. Atypical sex development can occur through different steps of testicular differentiation. Etiologies of 46 XY DSD are termed gonadal dysgenesis, hormonal dysfunction and action. Its global incidence is unknown but the most common presentation, hypospadias, is understood to occur in 1 in 125 male births, and complete androgen insensitivity has an incidence of 1:20,000 people.</...

Background: Loss-of-function mutations of the androgen receptor (AR) gene result in androgen insensitivity syndrome (AIS) in 46,XY individuals, causing a disorder of sex development. AIS has a clinical continuum according to the resistance severity, being classified into three main categories: complete (CAIS), partial (PAIS), and mild (MAIS). The authors present a female phenotype patient with CAIS.Case Report: An otherw...

Introduction: Congenital Lipoid Adrenal Hyperplasia (CLAH) is a severe deficiency of adrenal and gonadal steroidogenesis, caused by mutations in the StAR gene and the accumulation of cholesterol in the outer mitochondrial membrane due to steroidogenic acute regulatory protein (StAR) deficiency. Affected patients present peripheral adrenal insufficiency with early onset, and variable phenotypes at the age of puberty.Objective of o...

Introduction: Physiological pubertal gynecomastia is common in adolescents aged 13-14 years. Most physiological pubertal gynecomastia regresses spontaneously within 1-2 years. In studies: If it lasts more than 2 years, if prepubertal has started, endocrine evaluation is recommended. Sex differentiation disorders or genital abnormalities such as increased aromatase activity, adrenal/testicular neoplasia, partial androgen insensitivity syndrome and Klinefelter s...

Human sex development relies on differentiation of the gonads, in which Sertoli and granulosa cells play a key role for men and women respectively. Many variations of sex development (VSD) are due to alteration of these two cell types. The study of the mechanisms underlying these conditions is crucial for optimal clinical management of VSDs, as for more than 50% [1] of all VSD patients, the molecular cause of their condition remains unknown. The collection of primary cells is ...

Introduction: Β-thalassemia is a chronic hereditary hemolytic anemia characterized by a defect of synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East. Chelation therapy significantly prolonged the life expectancy of patients. This has led to an increase in the prevalence of endocrine complications, linked to iron overload. Gonadal Dusfunction is a frequent complication in polytransfused beta...

The DHX37 gene has been identified to cause 46, XY disorders of sex development (DSD), yet there are no reports in China. Here, we report a Chinese pediatric case of 46, XY DSD identified by Whole-exome sequencing which carried a heterozygous missense mutation c.2020 C > T (P.R674 W) in DHX37 gene (NM _ 032656) inherited from the mother. Gonadal pathology showed that the left gonad was structured with a vas deferens and epididymal duct, and the right gonad had vas deferens,...

Objective: Monosomy 18q and 10p duplications rare chromosomal disorders that are caused by deletion of a part of the long arm (q) of chromosome 18 and duplication of genetic material on the short arm (P) of chromosome 10 respectively. In both disorders the phenotype is highly variable and; includes short stature, developmental delay, hypotonia, and facial dysmorphic features. Also, genital abnormalities could occur in both disorders. Genital abnormalities (cry...

Introduction: Congenital adrenal hyperplasia is the most common cause of primary adrenal insufficiency. It is a rare monogenic recessive disorder. In African setting in absence of neonatal screening, the diagnosis is still late, based on a clinical approach. During this clinical enquiry, information form past history or pedigree of the patient are of a huge importance and may revealed surprisesPatients and methods: In th...

Context: The 45,X/46,XY mosaicism poses a great clinical challenge influencing gonadal development, histology, hormonal balance, and growth. Patients present a wide spectrum of phenotypes with varying degrees of genital ambiguity from Turner Syndrome to male. Here, we present five children with 45,X/46,XY mosaicism presenting with different clinical phenotypes.Case Descriptions:Case 1:</str...

Introduction: Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. 17β-HSD3 isoenzyme, expressed at testicular tissue, catalyzes the synthesis of testosterone from Δ4-androstenedione, allowing the correct development of male external genit...

Introduction: Isodicentric Y chromosome[idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45, X cell line.Methods: The aim of this study was to investigate the genotype and phenotype variability of patients with idic(Y). The clinical data from five patients was ext...

Hypogonadotropic hypogonadism is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients reach the diagnosis in late adolescence or in adulthood. A timely, appropriate diagnosis implicates a better clinical outcome and treatment timing. We describe the clinical case of a 15-year-old girl with primary amenorrhea. Stature and weight were in accordance with mid parental height; Tanner stage: PH2 B1. FSH, LH, oestradiol showed pr...

Introduction: Genes on the X chromosome (BMP15, FMR1) and autosomal chromosomes (FOXL2, RSPO1, WNT4) are known to influence ovarian development. 46,XX gonadal dysgenesis is a rare disease caused by chromosomal abnormalities, genetic mutations, and postnatal ovarian damage, leading to premature ovarian failure.Case Report: A 16-year-old female presented with primary amenorrhea and poor breast development. She was born at ...

The 5α-reductase deficiency type 2 is a rare autosomal recessive 46,XY disorder of sexual development (DSD), presenting with a wide clinical spectrum ranging from a male phenotype with hypospadias to a female phenotype with wolffian structures. Here we report about the clinical, hormonal and molecular characterization of two siblings with a mutation in the SRD5A2 gene, as well as the challenge of gender identity and the importance of psychosocial care. The older sibling ...

The anomalies of sexual differentiation correspond to congenital chromosomal, gonadal or phenotypic atypia of sexual development that group together pathologies with an undifferentiated or poorly differentiated aspect of the external genitalia and/or internal, or a state of mismatch between external genitalia and internal organs genitalia. The objective of this work is to describe the epidemiological, clinical and metabolic biomarker profiles in patients with abnormalities of ...

Introduction: Delayed puberty is defined as the absence of the development of sexual characteristics beyond the age of 14 for boys and 13 for girls. To better understand this pathology, we conducted a retrospective study over a period of 7 years; between 2013 and 2020, involving 11 patients with a delayed puberty, followed by a pediatric endocrinology consultation at the children’s hospital Ibn Sina in Rabat.Patients:</stro...