ESPE Abstracts

Background: 46,XY patients with 5α-reductase deficiency (5-ARD), reared from birth as girls, are reported to self-reassign as boys subsequent to a masculinizing puberty; whether this holds true in cases of early orchidectomy is less well documented.Objective and hypotheses: Prepubertal orchidectomy reduces the likelihood of gender self-reassignment.Method: Presentation, management and outcome of two siblings with 5-ARD with na...

Background: DAVID syndrome (deficit in anterior pituitary function and variable immune deficiency) (J Clin Endocrinol Metab 97 E121, 2012) can be caused by NFKB2 mutations (Am J Hum Genet 93 13, 2013). All patients have an orthotopic posterior pituitary (PP) and most only ACTH deficiency.Objective and Hypothesis: To describe a girl with common variable immunodeficiency (CVID), ectopic PP (EPP) ...

In Belgium, neonatal TSH screening for congenital hypothyroidism has been performed between day 3 and 5 of life since the late seventies. In January 2015, a policy of early discharge of healthy neonates was implemented so that the neonatal screening strategy had to be adapted. Between January 2015 and September 2019, dried blood spot sampling was mostly collected at home AFTER discharge at 72 h of life (Newborn Screening Strategy 1 (NBS1)). After October 2019, sampling was mos...

Resistance to thyroid hormone due to mutations inactivating thyroid hormone receptor-Beta occurs in one in 40,000 individuals and can arise de novo or be inherited, generally in a dominant fashion. Clinical manifestations are widely variable and include failure to thrive in infancy. The biochemical diagnosis is usually straightforward: high serum fT4 and non-suppressed TSH.We report two brothers who both inherited the known c.728G>A, p.R24...

Introduction: Consensus guidelines (2021) state that a second dry blood spot (DBS) should be considered for newborn screening (NBS) in preterms (delayed TSH rise).Objective: To evaluate the diagnostic yield of an NBS strategy including a second DBS at 14 days in preterms.Material and Methods: Retrospective study of 2 cohorts. Cohort 1: live births <37 weeks of gestational age (G...

Background: Congenital hypothyroidism (CH) caused by DUOX2 deficiency has a wide range of clinical presentations and phenotype-genotype correlations are not always straightforward.Objective: To describe four children from Quebec with biallelic DUOX2 variants and widely variable phenotypes.Design/Methods: Case series of four children seen for evaluation of thyroid function at the endocrinology service of two university hospitals in ...

Background: Renal tubular acidosis (RTA) is an uncommon cause of growth failure and rickets. In Haiti, diagnostic evaluation and management is challenged by limited access to comprehensive diagnostic tools.Case presentation: An 8-year-old Haitian girl was evaluated at an academic referral center for bony deformations and bone pain, progressive over the previous six years. Her 2.5 year-old sister presented similar symptoms, associated with dental caries a...

Background: Genetic females with congenital adrenal hyperplasia (CAH) from severe 21-hydroxylase deficiency may be declared at birth as cryptorchid boys. Neonatal salt wasting leads to early reassignment but in its absence, the condition may go unrecognized.Case presentation: A term newborn with non-palpable gonads but a penile urethra was declared as boy. At 4.8 years, the child presented with sexual precocity. Height was +2.3 S.D., penil...

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...

Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,500 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polygenic inherited variants,. As this l...