Endocrine Abstracts

Introduction: Bartter Syndrome types 3 and 4 (BS3/4) are rare tubulopathies, caused by CLCNKB and BSND mutations, which affect chloride channel function in the loop of Henle and distal convolute. Historically, with late presentation and poor disease control, patients had severe short stature. Multiple case reports have also found associations between BS3/4 and Growth Hormone deficiency (GHD). Our aim was to investigate growth and presence of GHD in a large co...

Background: 22q11.2 deletion syndrome (22q11DS) displays a wide phenotypic spectrum and is the most common deletion syndrome with an estimated incidence of one in 4000 children. Short stature is a phenotypic feature of the spectrum; uncommonly, GH deficiency (GHD) has been identified as a cause of short stature within this population.Patients and methods: We describe a case series of four 22q11DS patients with concurrent GHD that have been followed up in...

Introduction: Septo-optic dysplasia (SOD) is characterized by a combination of midline forebrain, pituitary and eye abnormalities. We aimed to evaluate the clinical, neuroradiological and endocrine features of patients with SOD and multiple pituitary hormone deficiencies (MPHD).Design: Retrospective data were collected from 76 patients with SOD and 26 with MPHD, followed at a single centre. SOD patients were divided into two groups: i) with pituitary hor...

Introduction: 11β-Hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) occurring in 1 in 100 000 births. The mainstay of management is with glucocorticoids to prevent virilisation and optimise growth. In this case, a novel approach was applied to improve linear growth in a patient who presented late with an advanced bone age.Case report: The patient was born in Turkey to consanguineous parents. Aged 3 years, ...

Introduction: Kallmann syndrome (KS) is a developmental disorder characterised by hypogonadotropic hypogonadism and anosmia. Known genetic causes account for up to 30% of patients with KS, with FGFR1 mutations being identified in 10%. FGFR1-related KS has an autosomal dominant inheritance with incomplete penetrance. We present a family with KS due to a novel variably penetrant FGFR1 mutation, where the presenting features included cleft lip/palate and anosmia...

Background: Lowe Syndrome is an X-linked recessive genetic disorder caused by OCRL gene mutations, which impair intracellular trafficking processes. Signs are multisystemic, including congenital cataracts, intellectual disability and proximal renal tubulopathy. Short stature is a common association, often attributed to chronic kidney disease through childhood. However, recent evidence suggests that the hypothalamo-pituitary-somatotroph axis may play a role. <p class="abste...

Introduction: To date, few cases with both congenital hypopituitarism (CH) and hyperinsulinaemic hypoglycemia (HH) have been reported in the literature. We now report a cohort of 12 cases with CHI associated with HH.Clinical Phenotype: An association between congenital hypopituitarism (CH) and hyperinsulinaemic hypoglycemia (HH) was present in 12 patients (M:F 9:3). Mean age at diagnosis of HH was 0.9 months, whereas mean age at diagnosis of CH was 2.0 y...

Introduction: Coffin-Siris Syndrome (CSS) is a rare multisystem genetic disorder which often arises from genetic abnormalities within genes encoding for the SWI/SNF complex (ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCA2, SMARCE1). Endocrine abnormalities previously associated with this disorder include idiopathic short stature, hyperinsulinism, obesity, growth hormone deficiency, and cryptorchidism. We describe the endocrine features and associated radiological find...

Background: Recombinant human Insulin-like growth factor-1 (rhIGF-1) is the only treatment for short stature due to primary IGF-1 deficiency and related disorders. However, treatment needs meticulous monitoring for adverse effects, especially hypoglycemia, obstructive sleep apnoea (OSA), raised intracranial hypertension, cardiac complications and skin reactions.Method: To determine therapeutic potential, efficacy and safety of rhIGF-1 treatment, case not...

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...