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I Castilla-Cortazar, J R De Ita, G A Aguirre, M García–Magariño, I Martín-Estal, V J Lara-Diaz, and M I Elizondo

Summary

Herein, we present a 14-year-old patient with short stature (134 cm) referred from Paediatrics to our department for complementary evaluation since growth hormone (GH) treatment failed to show any improvement. He was born premature and small for gestational age. Genital examination classified the patient as Tanner I–II with small penis and testicular size for his age. Biochemical analyses revealed normal GH levels with low serum insulin-like growth factor-1 (IGF-1). Molecular diagnosis confirmed several mutations in IGF1R and IGFALS, and so he was diagnosed with Laron Syndrome or GH insensibility and treated with IGF-1 substitutive therapy.

Learning points:

  • Evaluation of the GH/IGF-1 axis when short stature does not respond to conservative treatment must be included in the ordinary practice.
  • Laron Syndrome real incidence should be calculated once undiagnosed cases arise, as treatment, due to lack of market, is unaffordable.
  • Even when adulthood is reached, and no longitudinal growth can be achieved, still IGF-1 treatment in Laron Syndrome patients should be pursued as metabolic and protective derangements could arise.
Open access

Jordan Yardain Amar, Kimberly Borden, Elizabeth Watson, and Talin Arslanian

Reinehr T 2016 Progressive decline in height standard deviation scores in the first 5 years of life distinguished idiopathic growth hormone deficiency from familial short stature and constitutional delay of growth . Hormone Research in Paediatrics

Open access

María Clemente, Alejandro Vargas, Gema Ariceta, Rosa Martínez, Ariadna Campos, and Diego Yeste

: expanding the clinical phenotype . Hormone Research in Paediatrics 86 337 – 341 . ( doi:10.1159/000446396 ) 9 Gremlich S Nolan C Roduit R Burcelin R Peyot ML Delghingaro-Augusto V Desvergne B Michalik L Prentki M

Open access

Luísa Correia Martins, Ana Rita Coutinho, Mónica Jerónimo, Joana Serra Caetano, Rita Cardoso, Isabel Dinis, and Alice Mirante

Paediatrics 73 61 – 67 . ( doi:10.1159/000271917 ) 10.1159/000271917 20190541 Takasu N & Matsushita M Changes of TSH-stimulation blocking antibody (TSBAb) and thyroid stimulating antibody (TSAb) over 10 years in 34 TSBAb

Open access

Carla Costa, Cíntia Castro-Correia, Alda Mira-Coelho, Bessa Monteiro, Joaquim Monteiro, Ieuan Hughes, and Manuel Fontoura

New MI Ten S Sultan C Bhangoo A 2010 The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency . Hormone Research in Paediatrics 74 229 – 240 . ( doi:10.1159/000318004 ) Hughes IA

Open access

S Vimalesvaran, S Narayanaswamy, L Yang, J K Prague, A Buckley, A D Miras, S Franks, K Meeran, and W S Dhillo

young girls seen in office practice: a study from the Pediatric Research in Office Settings network . Paediatrics 99 505 – 512 . ( doi:10.1542/peds.99.4.505 ) 2 Pettersson F Fries H 1973 Epidemiology of secondary amenorrhoea. Incidence

Open access

Nami Mohammadian Khonsari, Benyamin Hakak-Zargar, Tessa Voth, and Shahab Noorian

Summary

Multiple sulfatase deficiency (MSD) is a lysosomal storage disorder (LSD) that results in the accumulation of sulfate esters which go on to cause neurological deterioration and mental delay, skin changes, and dysmorphism. The disease can be categorized into three subtypes based on the age of onset: neonatal, late infantile, or juvenile. Our patient is a 2.5-year-old girl, the only child of a healthy couple. Prior to the presentation of the disease, she had not been noted to have any previous health complications. The condition began at the age of 6 months with developmental regression and global hypotonia. Following thorough evaluation and testing, the patient was diagnosed with severe late infantile MSD, although some features, such as minimal mental deterioration, minimal dysmorphic facial features, and minimal organ enlargement, did not fully correlate with the diagnosis, since in cases of severe forms of the condition these features are almost always quite marked. The unexpected minimalism of some of the patient’s MSD signs in spite of the severity of her MSD condition made her case worth further studying.

Learning points:

  • Treating dermatologic signs and symptoms greatly eased our patient’s discomfort.
  • We would suggest the use of appropriate supportive treatment for symptom management regardless of the life expectancy of the patient.
  • As regards the diagnosis of MLD, given that in some cases the patient may present with irregular features of the condition, a genetic evaluation may be useful for accurate diagnosis.
  • If motor function impairment is followed by dermatologic involvement, as seen in our patient and in many cases in the literature, MSD must be considered, and additional tests should be done to rule it out.
Open access

George Stoyle, Siddharth Banka, Claire Langley, Elizabeth A Jones, and Indraneel Banerjee

381 – 388 . ( https://doi.org/10.1038/ejhg.2011.220 ) 9 Schott D Gerver W Stumpel C. Growth hormone therapy in children with Kabuki syndrome: 1-year treatment results . Hormone Research in Paediatrics 2017 88 258 – 264 . ( https://doi.org/10

Open access

Kewan Hamid, Neha Dayalani, Muhammad Jabbar, and Elna Saah

Research in Paediatrics 2014 81 80 – 103 . (doi: 10.1159/000358198 ) 10 Khera S Venkateshwar V Kanitkar M Devgan A. Varied presentations of hypothyroidism in children . Medical Journal Armed Forces India 2011 67 174 – 176 . (doi: 10.1016/S

Open access

Charlotte S Schömig, Marie-Ève Robinson, and Julia E von Oettingen

. Congenital hypothyroidism treatment in infants: a comparative study between liquid and tablet formulations of levothyroxine . Hormone Research in Paediatrics 2014 81 50 – 54 . ( https://doi.org/10.1159/000356047 ) 15 Cassio A Monti S Rizzello A