Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association

Summary A 40-year-old man with achondroplasia presented with symptoms of hypogonadism, low libido and gynaecomastia. He was found to have hypergonadotropic hypogonadism, and karyotype and fluorescent in situ hybridisation analysis showed SRY-positive 46, XX disorder of sex development (DSD). He was tested to have the common activating mutation of the FGFR3 gene implicated in achondroplasia, indicating that he had the two rare conditions independently, with an extremely low incidence of 1 in 400 million. This, to the best of our knowledge, is the first report of an individual having these two rare conditions concurrently. This case highlights that individuals with achondroplasia should have normal sexual development, and in those presenting with incomplete sexual maturation or symptoms of hypogonadism should prompt further evaluation. We also propose a plausible link between achondroplasia and 46, XX DSD through the intricate interactions between the SRY, SOX9 and FGFR9 gene pathways. Learning points: The SOX9 and FGF9 genes, which are upregulated by the SRY gene, are important in both sex determination in the embryo, as well as endochondral bone growth. Patients with achondroplasia should have normal sexual development and function in the absence of other confounding factors. Patients with achondroplasia who present with symptoms and signs of abnormal sexual development and/or hypogonadism should be appropriately investigated for other causes.

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Psychological Problem in Pediatric Disorder of Sex Development Patient and Relatives

Open Access Indonesian Journal of Medical Reviews ◽

10.37275/oaijmr.v1i2.552 ◽

2021 ◽

Vol 1 (2) ◽

pp. 24-27

Author(s):

Erlangga Danu Saputro

Keyword(s):

Sexual Development ◽

Psychosocial Problems ◽

Psychological Problem ◽

Systematic Search ◽

Basic Data ◽

Disorder Of Sex Development ◽

Sex Development ◽

Disorder Of Sexual Development ◽

Counselling Program

Disorder of sexual development (DSD) is one of challenging disorder that has to be done clinically and physiologically. The patients and relatives may experience various psychosocial problems that have an impact on their live. The aim of this study is to look at psychological problem in children with DSD and their relatives. A systematic search was conducted in PubMed for articles representing information on psychological problem to the patient and their relatives. Relevant data were extracted and narratively reviewed. The result of this review can be used as basic data in the development of counselling program for the patients and their relatives.

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Psychological Problem in Pediatric Disorder of Sex Development Patient and Relatives

Open Access Indonesian Journal of Medical Reviews ◽

10.37275/oaijmr.v1i2.33 ◽

2021 ◽

Vol 1 (2) ◽

pp. 24-27

Author(s):

Erlangga Danu Saputro

Keyword(s):

Sexual Development ◽

Psychosocial Problems ◽

Psychological Problem ◽

Systematic Search ◽

Basic Data ◽

Disorder Of Sex Development ◽

Sex Development ◽

Disorder Of Sexual Development ◽

Counselling Program

Disorder of sexual development (DSD) is one of challenging disorder that has tobe done clinically and physiologically. The patients and relatives may experiencevarious psychosocial problems that have an impact on their live. The aim of thisstudy is to look at psychological problem in children with DSD and their relatives.A systematic search was conducted in PubMed for articles representinginformation on psychological problem to the patient and their relatives. Relevantdata were extracted and narratively reviewed. The result of this review can beused as basic data in the development of counselling program for the patientsand their relatives.

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The dilemma of the gender assignment in a Portuguese adolescent with disorder of sex development due to 17β-hydroxysteroid-dehydrogenase type 3 enzyme deficiency

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-14-0064 ◽

2014 ◽

Vol 2014 ◽

Cited By ~ 1

Author(s):

Carla Costa ◽

Cíntia Castro-Correia ◽

Alda Mira-Coelho ◽

Bessa Monteiro ◽

Joaquim Monteiro ◽

...

Keyword(s):

Identity Development ◽

Social Factor ◽

External Genitalia ◽

Hydroxysteroid Dehydrogenase ◽

Child Psychiatrist ◽

List Type ◽

Gender Assignment ◽

Disorder Of Sex Development ◽

Sex Development ◽

Type 3

Summary The development of male internal and external genitalia in an XY fetus requires a complex interplay of many critical genes, enzymes, and cofactors. The enzyme 17β-hydroxysteroid-dehydrogenase type 3 (17βHSD3) is present almost exclusively in the testicles and converts Delta 4-androstenodione (Δ4) to testosterone. A deficiency in this enzyme is rare and is a frequently misdiagnosed autosomal recessive cause of 46,XY, disorder of sex development. The case report is of a 15-year-old adolescent, who was raised according to female gender. At puberty, the adolescent had a severe virilization and primary amenorrhea. The physical examination showed a male phenotype with micropenis and blind vagina. The Tanner stage was A3B1P4, nonpalpable gonads. The karyotype revealed 46,XY. The endocrinology study revealed: testosterone=2.38 ng/ml, Δ4>10.00 ng/ml, and low testosterone/Δ4 ratio=0.23. Magnetic resonance imaging of the abdominal–pelvic showed the presence of testicles in inguinal canal, seminal vesicle, prostate, micropenis, and absence of uterus and vagina. The genetic study confirmed the mutation p.Glu215Asp on HSD17B3 gene in homozygosity. The dilemma of sex reassignment was seriously considered when the diagnosis was made. During all procedures the patient was accompanied by a child psychiatrist/psychologist. The teenager desired to continue being a female, so gonadectomy was performed. Estrogen therapy and surgical procedure to change external genitalia was carried out. In this case, there was a severe virilization at puberty. It is speculated to be due to a partial activity of 17βHSD3 in the testicles and/or extratesticular ability to convert Δ4 to testosterone by 17βHSD5. Prenatal exposure of the brain to androgens has increasingly been put forward as a critical factor in gender identity development, but in this case the social factor was more important for the gender assignment. Learning points In this case, we highlight the late diagnosis, probably because the patient belongs to a poor family without proper primary medical care. We emphasize the psychological and social aspects in the sex assignment decision.

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Distraction Osteogenesis in the Treatment of Craniofacial Anomalies: Applications and Outcomes

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2020_persp-20-00055 ◽

2020 ◽

Vol 5 (6) ◽

pp. 1469-1481 ◽

Cited By ~ 1

Author(s):

Joseph A. Napoli ◽

Carrie E. Zimmerman ◽

Linda D. Vallino

Keyword(s):

Distraction Osteogenesis ◽

Bone Growth ◽

Upper Airway ◽

Craniofacial Anomalies ◽

Craniofacial Skeleton ◽

Facial Skeleton ◽

Psychosocial Impairment ◽

And Function ◽

Correct Structure

Purpose Craniofacial anomalies (CFA) often result in growth abnormalities of the facial skeleton adversely affecting function and appearance. The functional problems caused by the structural anomalies include upper airway obstruction, speech abnormalities, feeding difficulty, hearing deficits, dental/occlusal defects, and cognitive and psychosocial impairment. Managing disorders of the craniofacial skeleton has been improved by the technique known as distraction osteogenesis (DO). In DO, new bone growth is stimulated allowing bones to be lengthened without need for bone graft. The purpose of this clinical focus article is to describe the technique and clinical applications and outcomes of DO in CFA. Conclusion Distraction can be applied to various regions of the craniofacial skeleton to correct structure and function. The benefits of this procedure include improved airway, feeding, occlusion, speech, and appearance, resulting in a better quality of life for patients with CFA.

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Task shifting in the care for patients with hand osteoarthritis. Protocol for a randomized controlled non-inferiority trial

BMC Musculoskeletal Disorders ◽

10.1186/s12891-021-04019-9 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Ingvild Kjeken ◽

Kjetil Bergsmark ◽

Ida K. Haugen ◽

Toril Hennig ◽

Merete Hermann-Eriksen ◽

...

Keyword(s):

Health Care ◽

Disease Activity ◽

Primary Outcome ◽

Hand Osteoarthritis ◽

List Type ◽

Specialist Care ◽

Randomized Controlled ◽

Number Of Patients ◽

Specialist Health Care ◽

And Function

Abstract Background Current health policy states that patients with osteoarthritis (OA) should mainly be managed in primary health care. Still, research shows that patients with hand OA have poor access to recommended treatment in primary care, and in Norway, they are increasingly referred to rheumatologist consultations in specialist care. In this randomized controlled non-inferiority trial, we will test if a new model, where patients referred to consultation in specialist health care receive their first consultation by an occupational therapy (OT) specialist, is as safe and effective as the traditional model, where they receive their first consultation by a rheumatologist. More specifically, we will answer the following questions: What are the characteristics of patients with hand OA referred to specialist health care with regards to joint affection, disease activity, symptoms and function? Is OT-led hand OA care as effective and safe as rheumatologist-led care with respect to treatment response, disease activity, symptoms, function and patient satisfaction? Is OT-led hand OA care equal to, or more cost effective than rheumatologist-led care? Which factors, regardless of hand OA care, predict improvement 6 and 12 months after baseline? Methods Participants will be patients with hand OA diagnosed by a general practitioner and referred for consultation at one of two Norwegian departments of rheumatology. Those who agree will attend a clinical assessment and report their symptoms and function in validated outcome measures, before they are randomly selected to receive their first consultation by an OT specialist (n = 200) or by a rheumatologist (n = 200). OTs may refer patients to a rheumatologist consultation and vice versa. The primary outcome will be the number of patients classified as OMERACT/OARSI-responders after six months. Secondary outcomes are pain, function and satisfaction with care over the twelve-month trial period. The analysis of the primary outcome will be done by logistic regression. A two-sided 95% confidence interval for the difference in response probability will be formed, and non-inferiority of OT-led care will be claimed if the upper endpoint of this interval does not exceed 15%. Discussion The findings will improve access to evidence-based management of people with hand OA. Trial registration ClinicalTrials.gov, NCT03102788. Registered April 6th, 2017, https://clinicaltrials.gov/ct2/show/NCT03102788?term=Kjeken&draw=2&rank=1 Date and version identifier: December 17th, 2020. First version.

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