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Persistent Müllerian Duct Syndrome (PMDS) is a rare disorder of the anti-mullerian hormone (AMH) synthesis or receptor, which due to the visual contrast of normal masculine external genitalia and female internal genitalia can raise confusion, sometimes during surgery for cryptorchidism or hernia inguinalis. For an acute and accurate analysis of such a situation a thorough knowledge of gonadal embryology is mandatory. The diagnosis is made on finding Müllerian structures in an individual with complete virilization without signs of hypocortisolism or exposition to maternal androgens during foetal life. Karyotyping and gonadal biopsy provide additional information to confirm the diagnosis. As the risk of malignant transformation is not clear, orchidopexy is advised in patients with cryptorchidism, with lifelong palpatory follow-up. In case of urologic symptoms, surgical removal of the Müllerian remnants can be considered, with careful attention for the vulnerable ductus deferens. Despite optimal treatment the prognosis regarding fertility remain uncertain. [ABSTRACT FROM AUTHOR]

A case study is presented where a six-year-old boy presented with precocious puberty. Partial excision of the patient's tumor revealed a germinoma. The patient was treated with radiotherapy, and remained dependent of hormone replacement therapy. A the age of 21, he is reportedly continuing cortisone and thyroxine treatment. He is said to be doing well with a height of 1.84 meters and normal levels of 1GF-1, and germinoma has not recurred since.

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recently, mutations in the ORC1, ORC4, ORC6, CDT1, and CDC6 genes, encoding components of the pre-replication complex, have been identified. This complex is essential for DNA replication and therefore mutations are expected to impair cell proliferation and consequently could globally reduce growth. However, detailed growth characteristics of MGS patients have not been reported, and so this is addressed here through study of 45 MGS patients, the largest cohort worldwide. Here, we report that growth velocity (length) is impaired in MGS during pregnancy and first year of life, but, thereafter, height increases in paralleled normal reference centiles, resulting in a mean adult height of -4.5 standard deviations (SD). Height is dependent on ethnic background and underlying molecular cause, with ORC1 and ORC4 mutations causing more severe short stature and microcephaly. Growth hormone therapy (n = 9) was generally ineffective, though in two patients with significantly reduced IGF1 levels, growth was substantially improved by GH treatment, with 2SD and 3.8 SD improvement in height. Growth parameters for monitoring growth in future MGS patients are provided and as well we highlight that growth is disproportionately affected in certain structures, with growth related minor genital abnormalities (42%) and mammary hypoplasia (100%) frequently present, in addition to established effects on ears and patellar growth., (Copyright © 2012 Wiley Periodicals, Inc.)

Aim: To assess cardiac anatomy and myocardial systolic function in children with Prader-Willi syndrome (PWS)., Methods: Physical examination, electrocardiographic (ECG) recordings and transthoracic echocardiograms including two-dimensional speckle tracking echocardiography (2DSTE) were performed and evaluated in the Radboud University Hospital Nijmegen, the Netherlands. In total, 19 children diagnosed with PWS and 38 age-matched control subjects underwent cardiac evaluation., Results: Abnormal ECG findings were detected in nine PWS patients. Echocardiography revealed mild structural cardiac abnormalities in two patients. Conventional echocardiographic findings did not indicate systolic left ventricular dysfunction, in contrast to 2DSTE examination. Global peak systolic strain (rate) measurements, in all three directions of contraction, were significantly lower in children with PWS (p < 0.001) compared with healthy age-matched children. In two-thirds of the patients, 2DSTE revealed abnormal systolic deformation (peak systolic strain as well as strain rate). T2P values in PWS patients were similar to control subject. Systolic myocardial function appears more affected in case of maternal uniparental disomy., Conclusion: Cardiac evaluation, including 2DSTE, detects frequent alterations in myocardial systolic function in children diagnosed with PWS, whose conventional echocardiographic findings did not indicate ventricular systolic dysfunction. Because cardiovascular morbidity and mortality is substantial in PWS, especially adults, we emphasize the need for cardiac assessment in PWS., (© 2011 The Author(s)/Acta Paediatrica © 2011 Foundation Acta Paediatrica.)

Unlabelled: The aim of the study was to evaluate the effect of continuous and discontinuous growth hormone treatment in Noonan's syndrome (NS) on linear growth and bone maturation. Thirty-seven children with NS aged between 5.4 and 17.5 y were treated with growth hormone (GH) in a dose of 0.15 IU kg)(-1) per day; 23 of these children were randomly assigned to one of 2 groups in a 3 y partly controlled prospective multicentre study. Group A (n = 8) immediately started GH treatment and after 2 y discontinued GH treatment for 1 y; group B (n = 15) served as a control group during the first year and started GH treatment after 1 y. After the 3 y study period, 17 out of the 23 children continued GH treatment. An additional 14 children (group C) were treated according to the same protocol, but without discontinuation of GH treatment. The effect of GH treatment for up to 3 y was evaluated in terms of gain in height standard deviation score (H-SDS) for calendar age and for bone age. Gain in H-SDS over the first year was significantly higher in the GH treatment group (+0.5) than in the non-treated group (+0.0); mean bone maturation was significantly faster in the GH treatment group (1.2 vs 0.5 y/y). Discontinuation in group A in the third study year resulted in catch-down growth (mean deltaH-SDS -0.2). Over 3 y of GH treatment, mean AH-SDS for calendar age was not significantly different between discontinuous (A: +0.8) and continuous treatment (B: +0.8; C: +1.2). Mean gain in H-SDS for bone age in the 3 groups (+0.2, 0.0. +0.3) was minimal after 3 y of GH treatment., Conclusion: This study confirmed the gain in H-SDS CA in Noonan's syndrome during long-term GH treatment. However, the accelerating effect of GH on bone maturation seemed to compromise the final height prognosis.

We studied the growth-promoting effect of treatment with recombinant human growth hormone in 23 pre-pubertal children with Noonan syndrome, aged between 5.4 and 14.3 y, and all with a height < 1.4 SD for Tanner standards. The growth response and skeletal maturation after 1 y of recombinant human growth hormone treatment (0.15 U/kg/day given by daily injection) in the Noonan syndrome patients was compared with the auxological changes observed in a group of 17 girls with Turner syndrome with a comparable age and height deficit who were treated with recombinant human growth hormone in a similar way. During 1 y of treatment, the mean +/- SD height velocity increased by 4.0 +/- 1.6 cm/y in the Noonan syndrome group and by 3.6 +/- 1.3 cm/y in the Turner syndrome group. Height SDS for chronological age in the Noonan syndrome group increased by 0.53 +/- 0.46 (p < 0.001). In the Noonan syndrome patients the changes in height velocity were positively related to birthweight (r = 0.48, p < 0.05). The changes in height velocity or height SDS were not related to the age, height deficit or a delay in bone age maturation at start of treatment. In neither the patients with Noonan syndrome nor Turner syndrome was an acceleration of bone maturation found. We conclude that treatment with recombinant human growth hormone in pre-pubertal NS patients induces an increase in height velocity and height SDS comparable to that observed in Turner syndrome girls.