Availability, Usage, and Preferences of Estradiol and Progestogen Preparations for Puberty Induction from a Multicentral Perspective.

Introduction: Natural oestrogen administration as oral or transdermal 17β-estradiol is recommended for pubertal induction in girls with hypogonadism. However, suitable low-dose formulations are not consistently available globally. This questionnaire study aimed to identify the current availability of oestrogen and progesterone preparations worldwide.

Turner syndrome transition clinic in the West of Scotland: a perspective.

Introduction: Turner Syndrome (TS) is the commonest chromosomal abnormality in females. Establishing and maintaining long-term follow-up after transition to adult endocrine services, to allow for essential lifelong surveillance of hypertension and cardiovascular disease, and optimal hormone replacement, remains a challenge. A TS transition clinic was established with the aim of supporting successful transfer and establishing long-term follow-up in adult endocrine services.

Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.

Background: 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) deficiency is a rare form of congenital adrenal hyperplasia (CAH), with fewer than 200 cases reported in the world literature and few data on outcomes.

Patients And Methods: We report a mixed longitudinal and cross-sectional study from a single Algerian center between 2007 and 2021. Virilization and under-masculinization were assessed using Prader staging and the external masculinization score (EMS), pubertal development staged according to the system of Tanner.

Initial response of young people with thyrotoxicosis to block and replace or dose titration thionamide.

Objective: Patients with thyrotoxicosis are treated with anti-thyroid drug (ATD) using block and replace (BR) or a smaller, titrated dose of ATD (dose titration, DT).

Design: A multi-centre, phase III, open-label trial of newly diagnosed paediatric thyrotoxicosis patients randomised to BR/DT. We compared the biochemical response to BR/DT in the first 6 months of therapy.

Hypogonadism in the Prader-Willi syndrome from birth to adulthood: a 28-year experience in a single centre.

Background: Hypogonadism is a key feature of Prader-Willi syndrome (PWS) but clear strategies for hormone replacement are lacking.

Objective: To evaluate gonadal status and outcome in patients attending a Scottish PWS clinic from 1991-2019.

Methods: In 93 (35F:56M) patients, median follow-up 11.

Precocious Pseudo-puberty in a Two-year-old Girl, Presenting with Bilateral Ovarian Enlargement and Progressing to Unilateral Juvenile Granulosa Cell Tumour.

Ovarian causes of precocious pseudo-puberty (PPP) include McCune-Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT). We describe a case of PPP in which bilateral ovarian enlargement with multiple cysts progressed to unilateral JGCT. A girl aged 2.

Skeletal disproportion in girls with Turner syndrome and longitudinal change with growth-promoting therapy.

Objective: Short stature in Turner syndrome (TS) may be accompanied by skeletal disproportion. This retrospective study investigates growth and disproportion from early childhood to adult height.

Study Design: Data were collected from 59 girls prior to growth hormone (rhGH) treatment and in 30 girls followed up longitudinally.

Determination of thyroid volume in infants with suspected congenital hypothyroidism-the limitations of both subjective and objective evaluation.

Objective: To compare two methods of assessing gland size on thyroid ultrasound in newborn infants with suspected congenital hypothyroidism (CH).

Methods: Images from infants with eutopic glands referred between 2007 and 2013 were evaluated blind by two sets of observers. Subjective gland size was categorised as small, borderline-small, normal, borderline-large and large.

Randomised trial of block and replace vs dose titration thionamide in young people with thyrotoxicosis.

Objective: First-line treatment of thyrotoxicosis in young people is thionamide anti-thyroid drug (ATD) in a blocking dose with levothyroxine replacement (block and replace, BR) or in a smaller dose tailored to render the patient euthyroid (dose titration, DT). Our objective was to determine which regimen provides more stable biochemical control.

Design: A multi-centre phase III, open-label randomised trial comparing BR with DT in patients aged 2-17 years with newly diagnosed thyrotoxicosis at 15 UK centres.

Prevalence of hypopituitarism and quality of life in survivors of post-traumatic brain injury.

Background: Hypopituitarism is a recognized sequela of traumatic brain injury (TBI) and may worsen the quality of life (QoL) in survivors.

Aims: To assess the prevalence of post-traumatic hypopituitarism (PTHP) and growth hormone deficiency (GHD), and determine their correlation with QoL.

Methods: Survivors of moderate to severe TBI were recruited from two Algerian centres.

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.

Objective: CYP11A1 mutations cause P450 side-chain cleavage (scc) deficiency, a rare form of congenital adrenal hyperplasia with a wide clinical spectrum. We detail the phenotype and evolution in a male sibship identified by HaloPlex targeted capture array.

Family Study: The youngest of three brothers from a non-consanguineous Scottish family presented with hyperpigmentation at 3.

Effect of oxandrolone and timing of pubertal induction on final height in Turner syndrome: final analysis of the UK randomised placebo-controlled trial.

The UK Turner syndrome (TS) study examined the effect on final height of oxandrolone 0.05 mg/kg/day (maximum dose 2.5 mg) versus placebo from 9 years of age; and delaying ethinylestradiol induction of puberty by 2 years from 12 (E12) to 14 (E14) years in growth hormone-treated girls with TS.

Prevalence, risk factors and management strategies for otological problems in girls with Turner syndrome.

Aim: To determine the prevalence and risk factors of ear disease in Turner syndrome (TS), propose an algorithm for future surveillance and recommend preventative strategies.

Methods: Review of TS patients seen in the West of Scotland between 1989 and 2015, with questionnaire follow-up in 2015.

Results: Of 168 girls, median age 27.

Primary gonadal failure.

The term primary gonadal failure encompasses not only testicular insufficiency in 46,XY males and ovarian insufficiency in 46,XX females, but also those disorders of sex development (DSD) which result in gender assignment that is at variance with the genotype and gonadal type. In boys, causes of gonadal failure include Klinefelter and other aneuploidy syndromes, bilateral cryptorchidism, testicular torsion, and forms of 46,XY DSD such as partial androgen insensitivity. Causes in girls include Turner syndrome and other aneuploidies, galactosemia, and autoimmune ovarian failure.

Optimal Pubertal Induction in Girls with Turner Syndrome Using Either Oral or Transdermal Estradiol: A Proposed Modern Strategy.

Background: Most girls with Turner syndrome (TS) require pubertal induction with estrogen, followed by long term replacement. However, no adequately powered prospective studies comparing transdermal with oral 17β-estradiol administration exist. This reflects the difficulty of securing funding to study a rare condition with relatively low morbidity/mortality when competing against conditions such as cancer and vascular disease.

Predicted Benign and Synonymous Variants in Cause Primary Adrenal Insufficiency Through Missplicing.

Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children and young adults with PAI of unknown etiology from around the world and identified a heterozygous missense variant (rs6161, c.940G>A, p.

Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life.

Objective: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition.

Methods: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire.

Cortisol evaluation during the acute phase of traumatic brain injury-A prospective study.

Background: Biochemical diagnosis of adrenal insufficiency (AI) is difficult in the context of traumatic brain injury (TBI).

Aim: To assess the frequency and predictive factors of AI in victims of TBI from Algiers.

Methods: Between November 2009 and December 2013, TBI victims had a single 8-9 am serum cortisol measurement during the acute postinjury period (0-7 days).