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Acquired hypothyroidism is the most common thyroid disease in paediatric patients and in iodine-replete areas mainly due to autoimmune thyroiditis (AIT). Symptoms of hypothyroidism are unspecific and insidious for which reason thyroid function tests are often part of a general paediatric assessment. Consequently, only few patients present with pronounced symptoms which include a stunted growth pattern and multiorgan involvement when most extreme. This review provides an overview of the current knowledge on this common endocrinopathy in childhood.

Autoimmune thyroiditis (AIT) is the most common form of acquired hypothyroidism in paediatric patients in iodine-replete populations. AIT is characterised by a gradual autoimmune destruction of the thyroid gland. The diagnosis is verified by the presence of thyroid autoantibodies. Symptoms are rarely overt and the biochemical picture at presentation varies. This case report describes two paediatric patients that display heterogeneous clinical pictures to illustrate the variety of symptoms of AIT at presentation.

Background: Hypospadias surgery undertaken in early life often continues to impose challenges as patients age. Little is known about the natural history of uncorrected hypospadias persisting into adulthood., Objective: To describe presenting symptoms and management strategies in men with uncorrected hypospadias referred to our national tertiary transitional clinic for congenital urological conditions., Materials and Methods: Patients with uncorrected hypospadias older than 16 years at the time of referral were identified by searching the electronic patient record system for ICD-10 hypospadias codes. Data were extracted over a 10-year period according to a predefined protocol., Results: Among 201 referrals, 65 men with hypospadias (glanular n = 12, coronal n = 26, subcoronal n = 9, corporal n = 4, penoscrotal n = 2 and MIP n = 12) had never previously had reconstructive surgery undertaken. Obstructive symptoms predominated (n = 30) and the risk of symptoms increased with advancing age (Figure). Presenting complaints varied across the age span; cosmetic issues (n = 11) and coital pain (n = 5) were primarily seen in youth as opposed to urinary obstructive symptoms that were increasingly more frequent with age (p = 0.002) (Figure). Management included reconstructive surgery (n = 24), minor procedures (preputioplasty, circumcision, meatoplasty, dilatation/urethrotomy, total n = 28) as well as counselling (n = 12). The management strategies were independent of age and hypospadias type., Discussion: The current cohort delineates the dynamic nature of hypospadias in itself. We speculate that the distinction in the primary complaint leading to referral between the extremes of age may relate to the vanity and insecurity of youth while older patients first come forward when other symptoms arise. Dissatisfaction with genital appearance is uncommon in previous smaller studies on men with uncorrected hypospadias unlike in our study, where 11 patients were assessed mainly for cosmetic concerns. Obstruction is the main symptom encountered in adult hypospadias patients operated in early life, and a similar picture was observed in our cohort of unoperated cases. Urethral dilatation and internal urethrotomy are temporizing procedures but were successful in immediate alleviation of obstructive symptoms in patients not willing to consign themselves to formal surgery. The study is limited by its retrospective design, and our symptomatic cohort may also represent the extreme end of the hypospadias spectrum., Conclusion: Medical issues vary across the age span in men with unrepaired hypospadias. Minor surgical procedures as well as counselling play an equally important role as reconstructive hypospadias surgery in the management of unrepaired hypospadias in adulthood., Competing Interests: Conflicts of interest The third author is a statistical advisor for Journal of Pediatric Urology. All other authors have no conflicts of interest., (Copyright © 2022 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Objective: A consensus on how to monitor girls with central precocious puberty (CPP) during gonadotropin-releasing hormone agonist (GnRHa) treatment is lacking. Increased, unstimulated basal luteinizing hormone (LH) concentrations have been suggested to indicate lack of suppression. The aim was to evaluate pre-injection basal LH concentrations during GnRHa (leuprorelin 3.75 mg) treatment every four weeks in girls with CPP., Methods: Medical records were reviewed for girls with CPP treated at a single center from 2014-2019. Clinical characteristics and laboratory findings during treatment were systematically recorded., Results: A total of 587 GnRHa pre-injection basal LH concentrations were analyzed in 74 girls. Basal LH was pubertal (≥0.3 IU/L) in 53.5% of blood samples and 87.8% of all girls had a pubertal basal LH concentration at least once. A GnRH test (n=29) was repeated in 23 girls due to suspicion of clinical progression, elevated basal LH or recordable estradiol concentrations. None had a stimulated LH >3.1 IU/L. The predictability of treatment suppression (specificity) of basal LH concentrations was 12.0% when compared to repeated GnRH stimulation tests. Despite shortening the GnRHa injection interval to three weeks, basal LH concentrations remained pubertal in 85.7% girls. A significant reduction in height standard deviation score (p<0.001) and bone age advance (p<0.001) was observed during treatment., Conclusion: Pre-injection basal LH remains at pubertal concentrations during treatment with leuprorelin 3.75 mg in girls with CPP. Clinical monitoring of pubertal progression is preferable to routine basal LH concentrations. Repeat GnRH stimulation testing should be regarded as the gold standard.

Precocious puberty (PP) in girls is common and mostly idiopathic due to precocious activation of the gonadotropic axis. In this review, we find it important to distinguish the normal variant of slightly early puberty from rapidly progressive cases. Abnormal harmony of puberty more likely warrants a pathological condition. In girls aged about eight years with confirmed idiopathic PP, observation for 3-6 months is reasonable in order to identify clinically progressive cases, who will benefit from intervention with an gonadotropin-releasing hormone agonist.

Although the outcome of hypospadias surgery requires careful scrutiny, there is little consensus on what clinical outcome parameters should be considered essential as part of routine clinical practice. To understand the extent of variation in reported outcome measures, Pubmed was searched to identify outcomes in boys with hypospadias published in the English language from 2008 to 2017. Eligibility criteria were met in 268 publications. Outcomes were inconsistently reported and only 9 (13%) were reported in more than 25% of papers. Outcome studies describing younger boys were overrepresented. Urethrocutaneous fistula was reported in about 90% of publications that included boys aged <16 years. Among younger boys meatal stenosis, dehiscence, and urethral strictures were next most frequent. In the older age groups, an increasing frequency of cosmesis, meatal shape/location, and genital skin changes was described. Outcomes reflecting sexual health, erection, and relationship status including paternity were reported in those aged >16 years. The current study identifies the range of parameters that are measured to assess outcome after hypospadias surgery. The results can be used to promote the development of an age-specific core outcome set that can be applied as a standardized assessment tool in future routine clinical settings., (© 2019 S. Karger AG, Basel.)

The prognosis of primary congenital hypothyroidism, which has potentially devastating effects on neurodevelopment, has been almost eradicated after the implementation of the neonatal screening programme. Although early facilitation with substitution of levothyroxine is preventative, caution should still be taken in severe cases, as subtle psychomotor delays may occur. Treatment dose may be indicative of the severity and pathology behind the condition and can be used as guidance when deciding which patients should have a trial of levothyroxine in cases where the thyroid gland remains in situ.

A pregnant Caucasian woman with newly diagnosed syphilis in the secondary stage was hospitalized for observation while being treated with penicillin. After one dose of penicillin the foetus was delivered by a caesarean section at gestational age 28 weeks + five days due to a reduced blood flow in arteria cerebri media. He was small for gestational age with birth weight 1,320 g. He received intensive care for eight weeks and intravenously administered benzyl penicillin 80.000 IE × 2 in 15 days. At corrected age one year he was developmentally normal. The incidence of syphilis is increasing and this case illustrates that screening and awareness of syphilis in the Western world is important.

A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections which, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.