ESPE Abstracts

Background: Gonadal dysgenesis in female is defined as absent or insufficient development of ovaries. The patient with gonadal dysgenesis presents with primary amenorrhea and lack of development of secondary sexual characteristics. The patterns of inheritance is thought to be autosomal recessive.Case 1: A fourteen and half year-old-girl, presented with delayed puberty. She was born from consanguineous parents. Pelvic ultrasonography revealed streak ovari...

Cholestatic hepatitis and hypercalcemia are rare features of hypopituitarism in the newborn. So diagnosis of hypopituitarism is frequently delayed. Herein, we report a newborn that was investigated for cortisol deficiency and other pituitary hormone deficiencies and diagnosed with panhypopituitarism upon detection of cholestasis after referral to the endocrinology department for hypercalcemia, a very rare sign of cortisol deficiency. It is unclear which hormone causes cholesta...

Background: Pituitary gigantism is a rare disorder. Paediatric endocrinologists may see at most one or two patients during their careers. In one large series of 2367 children and adolescents with pituitary adenomas, only 15 (0.6%) had pituitary gigantism. Much of our understanding is derived from isolated case reports and extrapolation from the adult literature. No sex predilection is known. Gigantism may occur at any age, and has been observed as early as the first 6–9 m...

Background: McCune–Albright syndrome is a rare disorder defined as the triad of peripheral precocious puberty, café-au-lait skin pigmentation and fibrous dysplasia of bone, caused by mutation of the gene GNAS1, resulting in autonomous endocrine hormone excess.Objective and hypotheses: This is the first pediatric case of hirsutism due to tamoxifen, a selective estrogen receptor modulator.Case report: A 53/12 yea...

Background: Biallelic QRSL1 mutations cause mitochondrial “combined oxidative phosphorylation deficiency-40” (COXPD40). COXPD40 has been reported invariably lethal in infancy. Adrenal insufficiency was weakly reported and investigated among seven previously reported patients with COXPD40.Objective: We report clinical, biochemical, molecular, and functional characteristics of a patient with adrenal in...

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...

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

Background: Vitamin D Dependent Rickets Type-II (VDDRII) is a rare autosomal recessive disorder characterized by defects in its effect on the target organ due to mutations in the vitamin receptor (VDR) gene (Type 2) encoding for the active form 1,25 dihydroxyvitamin D.Objective and hypotheses: To evaluate the clinical characteristics, molecular genetics analysis results and long-term follow-up of a large nationwide cohor...