ESPE Abstracts

The source of hyperandrogenism can be adrenal, gonadal, mixed or exogenous. The reason of excessive androgen secretion for age can be primarily gonadal/adrenal or it could be secondary to trophic stimulation (LH, hCG, ACTH, insulin, IGFs). Clinical signs of hyperandrogenism in children include virilization (clitoral hyperplasia, labial fusion, even unclear sex in a newborn), premature pubarche, premature penile growth, accelerated linear growth, increased musculature, acne and...

To attain sexual competence, all mammalian species go through puberty, a maturational period during which body growth and development of secondary sexual characteristics occurs. Puberty begins with the reawakening of the gonadotropin-releasing hormone (GnRH) pulse generator. Reduction in inhibitory transsynaptic inputs combined with increased transsynaptic and glial excitatory inputs to the GnRH neuronal network are responsible for pubertal activation of GnRH neuro-secretion. ...

Recently, knowledge about the molecular genetic of male infertility has increased. However, in many cases, the etiology of infertility remains unknown. The Cancer/testis antigen: Fetal and Adult Testis Expressed (FATE-1), mainly expressed in human testis has been described two decades ago for his potential role in male infertility. FATE-1 is located on the X chromosome, contains a putative SF1 binding site and is co-expressed with SRY in human fetal testis. To date, only few d...

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis is transiently active during the first months of life with surging serum concentrations of reproductive hormones. This period, termed minipuberty, promotes masculinization, including testicular, and penile growth, as well as further testicular descent in males. It appears to be essential for priming specific cell types, i.e. Sertoli-, Leydig-, and germ cells, including subsequent growth and maturat...

Background: Primary ovarian failure is (POF) characterised by primary amenorrhoea or early menopause in females. Minichromosome maintenance 10 (MCM10) is a gene involved in DNA damage repair, DNA replication and chromatin formation has received attention as a potential genetic etiology for neoplastic disease. Drosophila with mutated MCM10 have subfertility and dysfunction in female germline development. In humans, biallelic mutations of the MCM10 causes NK cel...

Case report: 6 yrs. old boy presented with high total T4, free T4, reverse T3, and normal total T3 and TSH. He has a history of tic disorder. Blood pressure, and heart rate were normal, no palpitations, no weight loss. Thyroid peroxidase and thyroglobulin antibodies were normal. Thyroid sonogram was normal. Family is of Hispanic origin. There was a family history of elevated T4 in the paternal uncle (half-brother of the father)Me...

Growth retardation in children with type 1 diabetes (T1D) is mostly associated with longterm poor metabolic control or combination with other autoimmune diseases. Although rare it could be due to growth hormone deficiency. We present eleven-year-old girl, diagnosed with T1D at age of 2y6mo., on multiple daily injections (MDI) with analogues. She is raised in poor social conditions – low parental education and income, rare follow-up due to difficult access to healthcare p...

McCune Albright syndrome (MAS) is rare with a prevalence of 1 in 100,000 to 1 in 1,000,000, characterized by the triad of monostotic/polyostotic fibrous dysplasia (FD), café au lait skin pigmentation, and hyperfunctioning endocrinopathies caused by somatic activating mutations of the GNAS1 gene encoding the α subunit of guanine nucleotide-binding protein. Here we are reporting three cases of MAS who are actively being followed up in a leading Children’s Hosp...

Donohue syndrome(DS) is a rare and often lethal autosomal recessive disease. Its prevalence is estimated less than one in a million live births. Mutations in the insulin reseptor (INSR) gene cause rare severe INSR-related insulin resistance syndromes such as DS. It is characterized by severe insulin resistance (hyperinsulinemia, fasting hypoglycemia and postprandial hyperglycemia), intrauterine and postnatal growth retardation, hypotonia, organomegaly including heart, liver, k...

Background: Craniopharyngiomas (CPs) are benign brain tumours that intimately involve pituitary and, often, hypothalamus. Here, primary clinical conundrum is choosing between gross total resection and preserving endocrine functions. Robust predictors of recurrence are much needed, but require a deeper understanding of the molecular basis of CPs. Multiple studies show that CTNNB1 (β-catenin) somatic mutations drive the adamantinomatous subtype ...