ESPE Abstracts

Objective: To understand the clinical characteristics, etiological distribution and related metabolic problems of children with premature pubarche.Methods: The clinical data of 55 cases of premature pubarche were summarized. All the children were tested by ACTH stimulation test and GnRHa stimulation test, of which 17 cases were detected by CYP21A2 gene,and 16 cases of Premature Adrenarche (PA) and 14 cases of Isolated Pr...

Objectives: To investigate the effect of Letrozole on the reproductive function and linear growth in adolescent boys.Methods: 43 early and middle pubertal boy with seriously damaged predicted adult height(PAH), treated with letrozole 1.5mg/m2/d Po(≯2.5mg/d) with a duration of 3-18 months were enrolled as Short-, medium- and long- treatment group with letrozole of 3-6, 6-12, 12-18 months, respectively. 48 healthy pubertal boys were enrolled as control...

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is reported inadequate growth and impairment of the final height (FH).Objective: We present the results of near FH in 55 patients with classic 21-OHD followed up for approximately 11.6 years(the longest 25.3 years)in a single institution, and the variables related to NFH.Method: Patients with classic 21-OHD followed up at our clinic, who had ...

Background: Nephrotic syndrome is the most common cause of kidney disease in children, but its pathogenesis remains unclear. Nephrotic syndrome in patients with congenital adrenal hyperplasia has not been reported.Case presentation: A 38-month-old female child was admitted with eyelid edema. She was the first child (birth weight, 3.0 kg, full term) of non-consanguineous parents of Chinese Han ethnicit. She had been diagnosed with congenital adrenal hyper...

Background: FHHNC is an autosomal recessive disorder caused by mutations in either claudin 19 or claudin 16. This is a rare disorder of magnesium metabolism with fewer than 400 reported cases throughout the literature. It is also a somewhat underdiagnosed disorder, not being commonly observed.Case presentation: Patient was a 2 years old female who was incidentally noted to have nephrocalcinosis as part of evaluation for ...

Background: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a newly reported inborn error of metabolism caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). TRNT1 mutations cause a complex multisystem disease leading to manifestations in most organs. We here described the effect of growth hormone (GH) treatment on short stature in two siblings with TRNT1 deficiency.Case p...

Gynecologic anomalies, including uterine agenesis and ovarian dysgenesis, are reported in clinical practice of reproductive endocrinology. They are some of several differential diagnoses in adolescent females with primary amenorrhea and delayed puberty. Primary ovarian insufficiency can be determined by conducting sex hormone tests to evaluate the hypothalamic-pituitary-ovarian axis, but accurate confirmation of Mullerian agenesis can be extremely challenging by image modaliti...

Background: Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive diseases.Objective and hypotheses: To explore the characterization of ATP8B1, ABCB11 and ABCB4 gene mutational spectrum in children from South China.Method: By using PCR combined with direct DNA sequencing for 32 patients.Results: Six patients were diagnosed as PFIC.Conclusion: Six novel mutations...

DAX-1 is Dosage-sensitive sex reversal - Adrenal hypoplasia congenita critical region on the X chromosome 1, caused by mutation of NR0B1. It commonly presents X-Linked adrenal hypoplasia congenital, hypogonadotropic hypogonadism and infertility. However, we observed two patients whose testosterone elevated in their early infancy. Both of them are males with uneventful gestation and birth, and have a primary symptom as jaundice. For patient 1, poor feeding and pigment genital a...

Background: The adrenal glands and gonads develop from an area of intermediate mesoderm between 6 and 10 weeks post conception (wpc) in humans. Elucidating the genomic components and pathways in these processes could reveal novel aspects of human developmental biology and new factors implicated in adrenal insufficiency and DSD.Objective and hypotheses: To develop a unique genomic atlas of adrenal and gonad development during critical stages of human embr...